Rare Diseases 2013 PDF

2013 REPORT
Medicines in Development
Rare Diseases
A Report on Orphan Drugs in the Pipeline

presented by americas biopharmaceutical research companies
More Than 450 Medicines in Development for

Rare Diseases
Orphan Drugs in Development*
Application
Submitted
Phase III
Phase II
Phase I
105
Simply receiving a diagnosis of a rare

disease often becomes a frustrating
quest, since many doctors may have never before heard of or seen the disease.
85
This is, however, a time of great

progress and hope. Biopharmaceutical
research is entering an exciting new era
with a growing understanding of the
human genome. Scientific advances
have given researchers new tools to
explore rare diseases, which are often
more complex than common diseases.
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Rare diseases, when taken together, are

not that rare at all. In fact, according to
the National Institutes of Health (NIH),
30 million Americans have one of the
nearly 7,000 diseases that are officially
deemed rare because alone they each
affect fewer than 200,000 people in
the United States. Sometimes, only
a few hundred patients are known to
have a particular rare disease.
*Some medicines are listed in more than one category.
In 2012 alone, 13 orphan drugs were

approved for rare diseases, including
therapies for Cushing disease, cystic
fibrosis and Gaucher disease. Americas
biopharmaceutical research companies
are continuing that progress with 452
medicines and vaccines in development
for rare diseases. The medicines listed
in this report are either in clinical trials
or under review by the Food and Drug
Administration (FDA).
A major area of this research targets

rare cancers, accounting for more than
one-third of all rare disease medicines in
development. Other top research areas
include genetic disorders, neurological conditions, infectious diseases and
autoimmune disorders.
Despite some recent victories, research
into treatments for rare diseases is a
daunting quest. This ongoing innovation
and the hundreds of new medicines in
development now offer hope that physicians will have new treatment options
for patients confronting a rare disease.
Contents
Innovative Orphan Drugs
in the Pipeline.......................................... 2
Orphan Drug Approvals............................4
Challenges in Clinical Trials.......................6
Prescription Drug User Fee Act
(PDUFA).................................................. 7
Rare Disease Facts and Statistics............... 7
Orphan Drugs in Development..................8
Glossary................................................ 52
Drug Development/
Approval Process...................................56
Key Issues
Innovative Orphan Drugs in the

Pipeline for Rare Diseases
function and, as dystrophin expression increases, there have

been demonstrated improvements in patients ability to walk.
The 452 medicines and vaccines in development for rare diseases employ exciting new scientific and technical knowledge.
Many of the medicines, which offer hope for those suffering
from one of the nearly 7,000 rare diseases, represent innovative new ways to target disease, including:
Targeted RNAi Therapy Approach for Duchenne Muscular
DystrophyIn clinical trials, RNAi therapies have shown potential in treating neuromuscular disorders such as Duchenne
muscular dystrophy (DMD), which affects about 1 in every
3,500 to 6,000 male births each year in the United States.
In DMD, DNA deletions cause mutations in important genes
that encode for dystrophin, a structural protein found in
normal muscle. The loss of this protein causes muscle fibers
to disintegrate faster than they can be regenerated. One
medicine in development targets restoration of dystrophin
Potential New Treatment for a Genetic Disease in Infants

Hypophosphatasia is a rare inherited bone disease that
results from a genetic mutation which hinders the formation of bones and teeth and can result in substantial skeletal
abnormalities. Severely affected infants often have persistent
bone disease or die from respiratory insufficiency due to
progressive chest deformity from poorly developed bones.
Currently, there are no approved medicines for this disease.
One therapy in development delivers the enzyme necessary
for proper bone growth that patients with hypophosphatasia
are missing.
Treatments for Patients with Debilitating Lung Disease
Idiopathic pulmonary fibrosis (IPF) is a debilitating and almost
uniformly fatal disease in which patients experience progressive difficulty breathing due to scarring of the lungs. There
are currently no effective treatment options available, and
Medicines in Development By Disease and Phase

Some medicines are listed in more than one category.
Autoimmune Disorders
18
Blood Disorders
Application
Submitted
Cancer
105
Cancer, Blood
65
Cancer-Related
15
Cardiovascular Diseases
4
14
Digestive Disorders
Eye Disorders
16
Genetic Disorders
85
Growth Disorders
Infectious Diseases
28
Neurological Disorders
32
Respiratory Disorders
Skin Conditions
Transplantation
Other
Phase II
Phase I
10
Cancer, Skin
Phase III
20
2
14
35
Rare Diseases 2013
Key Issues
RARE DISEASES BIG IMPACT
RAR
E D IS E
7,000
ASES WORLDWIDE
Source: National Institutes of Health
the average patient with IPF dies within three years of diagnosis. A medicine in development targets connective tissue
growth factor, which is elevated in the lungs of IPF patients.
Researchers recently announced promising results from a
Phase II trial in which 60 percent of IPF patients were able
to stabilize their disease or experience improvement in lung
function.
Orphan Drug Act of 1983

A Success Story
Recognizing the scarcity of medicines to treat rare
diseases with very small patient populations, the
Orphan Drug Act of 1983 provided incentives to
companies developing rare disease treatments.
Over the last 30 years, more than 400 medicines
representing 447 separate indications have been
approved to treat rare diseases, compared to
fewer than 10 in the 1970s. As of September
15, 2013, the FDA has granted the orphan drug
designation to 2,899 potential therapies.
ALS: Fighting a Devastating DiseaseAmyotrophic lateral

sclerosis (ALS), or Lou Gehrigs disease, is a progressive
neurodegenerative disease that causes the brain to lose
control over body movement, ultimately resulting in paralysis
and death. The one drug approved to treat ALS can modestly slow progression of the disease, but new treatments
are needed. As our scientific understanding of the disease
has grown, researchers are pursuing many new approaches
to halt or slow progression, including the use of the patients
own bone marrow stem-cells to create healthy neuron-like
cells to replace diseased neurons. Other trials are studying
ways to prompt the immune system to protect neurons affected by ALS.
Two Targets to Fight LeukemiaA potential first-in-class
medicine for acute lymphoblastic leukemia (ALL) is a bispecific T-cell engager antibody designed to focus the bodys
cell destroying T-cells against cells expressing CD19, a
protein found on the surface of B-cell-derived leukemia and
lymphoma. The modified antibodies are designed to engage
two different targets simultaneously, linking the T-cells to
cancer cells.
Combination Vaccine Treatment for Pancreatic CancerA
potential treatment for pancreatic cancer is a combination of
two therapeutic vaccines. The treatment combines a Listeriabased vaccine that has been engineered to express the

BY DEFINITION, A RARE DISEASE AFFECTS
<200,000
patients in the United States
Rare Diseases 2013
Key Issues
tumor-associated antigen mesothelin and allogeneic pancreatic cancer cells that are genetically-modified to secrete the
immune-stimulant, granulocyte-macrophage colony stimulating factor (GM-CSF). The cells are irradiated to prevent
further cell growth although they stay metabolically active.
Sequential administration of the vaccines in animal studies
have demonstrated enhanced tumor-specific T-cell and antitumor responses.
Orphan Drug Approvals for

Rare Diseases
Since passage of the Orphan Drug Act in 1983, more than
400 medicines for rare diseases have been brought to market. Below are some key approvals for rare diseases in recent
years that represent new technologies or a more defined
patient population target.

IN TOTAL, RARE DISEASE IMPACT
30 MILLION
1 IN 10 AMERICANS
Zelboraf (vemurafenib), a personalized medicine, was

approved for the treatment of unresectable or metastatic
melanoma that expresses a gene mutation called BRAF
V600E. It was approved with a first-of-its-kind companion
diagnostic (4800 BRAF V600 Mutation Test) to help determine if a patient has the gene mutation. A normal BRAF
protein is involved in regulating cell growth but a mutated

form is found in about half of the late-stage melanoma
cases. Zelboraf is able to block the function of the V600Emutated BRAF protein.
Seeking New Treatments for Children with a Rare Disease

The National Institutes of Health estimates that 50 percent of people affected by rare diseases are children,
making rare diseases a particularly deadly and debilitating concern for children worldwide. Rare diseases
are responsible for 35 percent of deaths in the first year of life and 30 percent of children with a rare disease
will not live to see their fifth birthday.
Encouragingly, one in three of the nearly 3,000 treatments with orphan designation are for children. In
addition to the Orphan Drug Act, two other laws have made a significant impact on pediatric research. The
Best Pharmaceuticals for Children Act (BPCA) and the Pediatric Research Equity Act (PREA) have resulted
in a wealth of useful information about dosing, safety, and efficacy. According to the FDA, BPCA and PREA
have resulted in 467 pediatric labeling changes since 1988. Together, BPCA and PREA have helped foster
research and greatly advanced our ability to treat pediatric patients.
BPCA and PREA were permanently reauthorized by the Food and Drug Administration Safety and Innovation
Act of 2012 (FDASIA). By providing a predictable regulatory environment, the permanent reauthorization
will help ensure that pediatric research by biopharmaceutical companies continues to advance childrens
medical care. FDASIA also required the FDA to hold a public meeting and issue a report on encouraging and
accelerating development of new therapies for pediatric rare diseases.
Rare Diseases 2013
Key Issues
In the last five years, one-third of all new

drug approvals were for rare diseases

FDA
Adcetris (brentuximab vedotin), the first in a new class of

antibody-drug conjugates (ADCs), was approved to treat
Hodgkin lymphoma and systemic anaplastic large cell lymphoma (ALCL), a rare type of lymphoma that represents only
3 percent of all non-Hodgkin lymphomas. ADCs combine
a monoclonal antibody and a therapeutic drug, where the
antibody directs the therapeutic to target the cancerous cells.
It is also the first FDA-approved drug for Hodgkin lymphoma
in more than 30 years and the first to specifically treat ALCL.
Adcetris is composed of an anti-CD30 monoclonal antibody
and a microtubule disrupting agent, allowing it to release its
therapeutic drug once inside the CD30-expressing tumor cells.
Ilaris (canakinumab), a fully human monoclonal antibody,
was approved to treat adults and children as young as age 4
with cryopyrin-associated periodic syndrome (CAPS). Specifi-
AN
DRU
SINCE 1983, NEARLY
CT
GA
ORPH
1983
2,900
cally, Ilaris was approved to treat two types of CAPS: familial

cold-auto-inflammatory syndrome (FACS) and Muckle-Wells
syndrome (MWS). CAPS is a serious auto-inflammatory
disease that lasts a lifetime with symptoms such as fever,
headache, fatigue, skin rash, painful joints and muscles.
CAPS is caused by a single gene mutation that leads to
overproduction of interleukin-1 beta, which causes sustained
inflammation and tissue damage. Ilaris rapidly and selectively
blocks production of interleukin-1 beta.
Kalydeco (ivacaftor) was the first medicine approved to
treat the underlying cause of cystic fibrosis (CF) and not just
the symptoms of the disease. It targets a defective protein
to help achieve sustained improvement in lung function.
Kalydeco was approved for use in people with cystic fibrosis
(ages 6 and older) who have at least one copy of the G551D
mutation in the CF transmembrane conductance regulator (CFTR) gene. The defect affects a small portion of CF
patientsabout 5 percent or 1,200 of the 30,000 CF sufferersbut it also provides hope that knowledge gained will
lead to treatments that will help even more CF patients.
Patient Engagement
The biopharmaceutical research industry is
committed to close collaboration and regular
coordination with rare disease patient groups
and other rare disease stakeholders. We must
work together towards building a positive policy
environment to help us meet the public health
challenges that rare diseases present.
ORPHAN DRUG
DESIGNATIONS
RESEARCH PROGRESS HOPE
Source: Office of Orphan Products Development,

Food and Drug Administration
Rare Diseases 2013
Key Issues

TREATMENTS
FDA 400 APPROVED
GOOD START, but
<5%
of
RARE DISEASES
HAVE A TREATMENT
Source: Food and Drug Administration,

EveryLife Foundation for Rare Diseases
Challenges in Clinical Trials for

Rare Diseases
Advances in science and technology, such as personalized
medicine, are creating new opportunities to improve and
expand research into rare diseases and the development of
new treatments. While personalized medicine is just beginning to impact patients, the Personalized Medicine Coalition
estimates that available personalized medicines, treatments
and diagnostic products increased from 13 in 2006 to 72 by
2011. In just 10 years since the human genome was mapped,
real progress has been made.
The sequencing of the human genome and the analysis of
critical proteins in the blood have profoundly impacted biopharmaceutical research and are yielding important new tools
for understanding and treating a wide range of conditions.
These tools are proving critical for taking on rare diseases,
which are often more complex than more common diseases.
Many rare diseases will require new tactics to find effective
treatments.
Researchers are increasingly able to identify much more targeted patient populations and this new knowledge is allowing clinicians to discover whether a patient is developing or
will develop an illness much earlier. Already researchers have
found genes associated with diseases such as myotonic dystrophy, ALS, cystic fibrosis, progeria and neurofibromatosis
types 1 and 2. These breakthroughs are a crucial step toward
new treatments.
Evolving genetic research may offer a solution to the challenges of clinical development. Genetic markers may make it
possible to identify a patient population in advance and allow
clinical trials with a smaller number of participants.
Before a potential new treatment can be approved, it must
be tested in clinical trials. It is often difficult to find patients
to volunteer in clinical trials, and rare diseases pose an even
greater challenge. Specific rare disease patient populations
are very small, geographically dispersed and often include
children. The biopharmaceutical sector is working with patient advocacy organizations to identify and advance better
ways to connect patients to biopharmaceutical and academic
researchers conducting clinical trials.
Physicians and patients can find out about clinical trials being
conducted all over the country in collaboration with local
institutions by accessing www.clinicaltrials.gov, a database
sponsored by the National Institutes of Health. Information
on clinical trials and medicines in development is also available on www.phrma.org.
452
medicines
& vaccines in
development
Source: PhRMA, 2013 Rare Diseases Report
Rare Diseases 2013
Key Issues
Prescription Drug User Fee Act

(PDUFA) Continues To be a Success
for Patients and Medical Innovation
Since 1992, the Prescription Drug User Fee Act (PDUFA)
has provided additional resources to FDA to help make
safe and effective new medicines available to patients in a
timely manner. In its first 20 years, PDUFA brought more
than 1,500 new medicines to Americans; increased FDAs
staffing and resources; helped improve the consistency,
predictability and efficiency of FDA reviews; encouraged
medical innovation and economic growth; and preserved
and strengthened FDAs high safety standards. PDUFA
has been reauthorized and amended four times since its
original passage in 1992in 1997, 2002, 2007, and most
recently in 2012 as PDUFA V.
PDUFA V encompasses several provisions that will positively
impact research and development of treatments for rare
diseases.
PDUFA V Advances Regulatory

Science
Through PDUFA V, FDA will have dedicated resources to
develop and apply new scientific tools and approaches to assess the safety and effectiveness of new medicines.
Additional FDA resources will help to better address
submissions that involve pharmacogenomics and qualified
biomarkers.
FDA will support the development of treatments for rare
diseases by increasing outreach to the patient community, providing specialized training for agency staff, and
developing guidance and policy related to advancing and
facilitating the development of medicines for rare diseases.
Dedicated FDA staff will evaluate and define best practices for the conduct of meta-analyses and to inform guidance on commonly accepted and standardized methodologies to be used in drug review and safety monitoring.
Dedicated FDA staff will support the advancement of the
use of patient-reported outcomes and other outcomes
assessment tools.
Rare Disease Facts and Statistics

Here are a few statistics and facts to illustrate the breadth
of the rare disease challenge in the United States and
worldwide.
There are approximately 7,000 different types of rare
diseases and disorders, with more being discovered
each day.
30 million people in the United States are living with
rare diseases. This equates to 1 in 10 Americans or
10 percent of the population.
It is estimated that 350 million people worldwide suffer from rare diseases.
If all of the people with rare diseases lived in one
country, it would be the worlds third most populous
country.
Rare Diseases 2013
In the United States, a condition is considered rare if

it affects fewer than 200,000 people.
About 80 percent of rare diseases are genetic in origin,
and thus are present throughout a persons life, even if
symptoms do not immediately appear.
The prevalence distribution of rare diseases is
skewed 80 percent of all rare disease patients are
affected by approximately 350 rare diseases.
According to the EveryLife Foundation for Rare Diseases, 95 percent of rare diseases lack a single FDA
approved treatment.
ource: The Global Genes Project, a program of The
S
R.A.R.E. Project
Orphan Drugs in Development
Product Name
Sponsor
Official FDA Designation*
Development Status**
Actemra
tocilizumab
Genentech
South San Francisco, CA
treatment of systemic sclerosis to be

a separate disease or condition from
localized scleroderma
Phase II
www.gene.com
apremilast
(CC-10004)
Celgene
Summit, NJ
treatment of Behcets disease
Phase II
www.celgene.com
ARA290
Araim Pharmaceuticals
Ossining, NY
treatment of neuropathic pain in

patients with sarcoidosis
Phase II
www.araim.org
ARG201
(type 1 native bovine skin collagen)
arGentis Pharmaceuticals
Memphis, TN
treatment of diffuse systemic sclerosis
Phase II
www.argentisrx.com
caplacizumab
(ALX-0081)
Ablynx
Ghent, Belgium
treatment of thrombotic
thrombocytopenic purpura
Phase II
www.ablynx.com
Diamyd
autoimmune diabetes vaccine
Diamyd Medical
Stockholm, Sweden
treatment of type I diabetes with

residual beta cell function
Phase III
www.diamyd.com
DiaPep277
(peptide vaccine)
Andromeda Biotech
Ness Ziona, Israel
for use in type 1 diabetic mellitus

patients with residual beta-cell
function
Phase III
www.andromedabio.com
E5501
(avatrombopaq)
Eisai
Woodcliff Lake, NJ
treatment of idiopathic
Phase III
www.eisai.com
Firdapse
amifampridine
Catalyst Pharmaceutical
Coral Gables, FL
treatment of Lambert-Eaton
myasthenic syndrome
(Breakthrough Therapy)
Phase III
www.catalystpharma.com
gevokizumab
(XOMA 052)
XOMA
Berkeley, CA
treatment of Behcets disease

(see also eye)
Phase III
www.xoma.com
Gilenya
fingolimod
Novartis Pharmaceuticals
East Hanover, NJ
treatment of chronic inflammatory

demyelinating polyneuropathy
Phase III
www.novartis.com
IBC-VS01
(insulin B-chain vaccine)
Orban Biotech
Brookline, MA
treatment of type 1 diabetes patients

with residual beta cell function
Phase I
www.orbanbiotech.com
Oralgam
human gammaglobulin oral
Latona Life Sciences

Scottsdale, AZ
treatment for juvenile rheumatoid

arthritis
Phase II completed
www.latonalifesciences.com
Pomalyst
pomalidomide
Celgene
Summit, NJ
treatment of systemic sclerosis

(see also cancer, related)
Phase II
www.celgene.com
*The designation is issued by the FDAs Office of Orphan Products Development while the drug is still in development. The designation makes the sponsor of the drug eligible
for entitlements under the Orphan Drug Act of 1983. The entitlements include seven years of marketing exclusivity following FDA approval of the drug for the designated use.
**For more information about a specific medicine or company in the report, please use the website provided.
Rare Diseases 2013
Rare Diseases
Orphan
Drugs in Development
Product Name
Sponsor
Official FDA Designation
Development Status
Prochymal
remestemcel-L
Osiris Therapeutics
Columbia, MD
treatment of type 1 diabetes patients

with residual beta cell function
(see also transplantation)
Phase II
www.osiris.com
Simponi
golimumab
Janssen Biotech
Horsham, PA
treatment of sarcoidosis
(see also digestive)
Phase II
www.janssenbiotech.com
Stelara
ustekinumab
Janssen Biotech
Horsham, PA
treatment of chronic sarcoidosis
Phase II
----------------------------------------Phase II
----------------------------------------treatment of primary biliary cirrhosis

teplizumab
(anti-CD3 mAb)
MacroGenics
Rockville, MD
treatment of recent-onset type 1

diabetes
Phase III
www.macrogenics.com
Product Name
Sponsor
Development Status
fedratinib
Sanofi US
Bridgewater, NJ
treatment of secondary and primary

myelofibrosis
----------------------------------------treatment of polycythemia vera
Phase III
www.sanofi.com
----------------------------------------Phase II
www.sanofi.com
human prothrombin complex

concentrate
Octapharma USA
Hoboken, NJ
reversal of anticoagulation therapy in

patients needing treatment of serious
or life-threatening bleeding and/or
needing urgent surgery or invasive
procedures
application submitted
www.octapharma.us
Jakafi
ruxolitinib
Incyte
Wilmington, DE
treatment of polycythemia vera

(Fast Track)
(see also cancer)
----------------------------------------treatment of essential
thrombocythemia
Phase III
www.incyte.com
treatment of myeloproliferative
disorders (polycythemia vera,
essential thrombocythemia and
myelofibrosis)
Phase II
www.lilly.com
Blood Disorders
LY2784544
(gandotinib)
Eli Lilly
Indianapolis, IN
Rare Diseases 2013
----------------------------------------Phase II
www.incyte.com
Blood Disorders
Product Name
Sponsor
Development Status
pacritinib
Cell Therapeutics
Seattle, WA
treatment of myeloproliferative
disorders with the JAK2 V617F mutation
Phase III
www.celltherapeutics.com
simtuzumab
(anti-LOXL2 mAb)
Gilead Sciences
Foster City, CA
treatment of myelofibrosis
(see also cancer, respiratory)
Phase II
www.gilead.com
SPD602
(iron chelator)
Shire
Wayne, PA
treatment of chronic iron overload in

patients with transfusion-dependent
anemias
Phase II
www.shire.com
Product Name
Sponsor
Development Status
Abraxane
paclitaxel protein-bound particles
for injection suspension,
(albumin-bound)
Celgene
Summit, NJ
treatment of pancreatic cancer

(see also cancer, skin)
Phase III
www.celgene.com
ABT-414
(EGFR ADC)
AbbVie
North Chicago, IL
treatment of glioblastoma multiforme

(GBM)
Phase I
www.abbvie.com
ADI-PEG20
(pegylated arginine deiminase)
Polaris Pharmaceuticals
San Diego, CA
treatment of hepatocellular
melanoma
Phase III
www.polarispharma.com
ADXS-HPV
Advaxis
Princeton, NJ
treatment of HPV-associated anal

cancer
Phase I/II
www.advaxis.com
AEZS-108
(zoptarelin doxorubicin)
AEterna Zentaris
treatment of ovarian cancer
Phase II completed
www.aezsinc.com
Afinitor
everolimus
East Hanover, NJ
carcinoma
Phase III
www.novartis.com
aldoxorubicin
CytRx
Los Angeles, CA
treatment of soft tissue sarcoma

-------------------------------------treatment of adenocarcinoma of the
pancreas
Phase II
www.cytrx.com
----------------------------------------Phase II
www.cytrx.com

(Fast Track)
Phase III
www.linkp.com
Cancer
algenpantucel-L
10
NewLink Genetics
Ames, IA
Rare Diseases 2013
Cancer
Product Name
Sponsor
Development Status
alisertib
(MLN8237)
Millennium Pharmaceuticals
Cambridge, MA

(see also cancer, blood)
Phase II completed
www.millennium.com
AMG 102
(rilotumumab)
Amgen
Thousand Oaks, CA
treatment of gastric cancer including

gastroesophageal junction
adenocarcinoma
Phase III
www.amgen.com
amrubicin
Celgene
Summit, NJ
Dainippon Sumitomo Pharma
Osaka, Japan
treatment of small-cell-lung cancer
Phase III
www.celgene.com
ARC-100
(abeotaxane inhibitor)
Archer Biosciences
New York, NY
treatment of gliomas
Phase II
www.archerbiosciences.com
----------------------------------------Phase I/II
www.archerbiosciences.com
----------------------------------------treatment of pediatric neuroblastoma

Archexin
antisense oligonucleotide
Rexahn
Rockville, MD
Phase II
www.rexahn.com
astuprotimut-R
GlaxoSmithKline
Rsch. Triangle Park, NC
treatment of MAGE-A3 positive

non-small-cell lung cancer
Phase III
www.gsk.com
ATR-101
Atterocor
Ann Arbor, MI
treatment of adrenocortical
carcinoma
Phase I
www.atterocor.com
AVO113
(dendritic cell cancer
immunotherapy)
Activartis Biotech
Vienna, Austria
treatment of malignant glioma
Phase II
www.activartis.com
Avastin
bevacizumab
Genentech
therapeutic treatment of patients

with ovarian cancer
www.gene.com
Azedra
iobenguane I-131
Progenics Pharmaceuticals
Tarrytown, NY
treatment of neuroendocrine tumors

(Fast Track)
Phase II
www.progenics.com
BAY 94-9343
(anti-mesothelin-ADC)
Bayer HealthCare Pharmaceuticals

Wayne, NJ
treatment of mesothelioma
Phase I
www.bayerpharma.com
BC-819
(gene therapy)
BioCancell Therapeutics
Jerusalem, Israel

(Fast Track)
Phase II
www.biocancell.com
Rare Diseases 2013
11
Cancer
Product Name
Sponsor
Development Status
CBP501
(peptide mimetic)
CanBas
Shizouka, Japan
for use in combination with cisplatin

and pemetrexed for the treatment of
patients with mesothelioma
Phase II
www.canbas.co.jp
Ch14.18 mAb
United Therapeutics
Silver Spring, MD
treatment of neuroblastoma
Phase III
www.unithers.com
CO-1686
(EGFR receptor antagonist)
Clovis Oncology
Boulder, CO
treatment of non-small-cell lung

cancer and mutations in the
epidermal growth factor receptor
Phase I/II
www.clovisoncology.com
Cotara
TNT-1B mAB
Peregrine Pharmaceuticals
Tustin, CA

and anaplastic astrocytoma
Phase II
www.peregrineinc.com
CP-613
Cornerstone Pharmaceuticals
Cranbury, NJ
Phase I/II
www.cornerstonepharma.com
CPP-1X
(eflornithine)
Cancer Prevention Pharmaceuticals

Tucson, AZ
Phase II
www.canprevent.com
crenolanib
(CP-868-596)
AROG Pharmaceuticals
Dallas, TX

Phase I
www.arogpharma.com
CRS-207/GVAX Pancreas
(listeria monocytogenes)
Aduro Biotech
Berkeley, CA
Phase II
www.adutobiotech.com
CVac
intradermal cancer vaccine
Prima Biomed
Sydney, Australia
Phase II/III
www.primabiomed.com
DCVax-Brain
dendritic cell vaccine
Northwest Biotherapeutics
Bethesda, MD
treatment of primary brain malignant

cancer
Phase III
www.nwbio.com
EGEN-001
Expression Genetics
Huntsville, AL
Phase II
www.egeninc.com
ENMD-2076
EntreMed
Rockville, MD
treatment of ovarian carcinoma
Phase II
www.entremed.com
ensituximab
(NPC-1C)
Precision Biologics
Dallas, TX
Phase I/II
www.precision-biologics.com
Estybon
rigosertib
Onconova Therapeutics
Newton, PA

Phase III
www.onconova.com
12
Rare Diseases 2013
Cancer
Product Name
Sponsor
Development Status
etirinotecan pegol
(NKTR-102)
Nektar Therapeutics
San Francisco, CA
Phase II
www.nektar.com
FANG Vaccine
autologous tumor cell vaccine
Gradalis
Carrollton, TX

Phase II
www.gradalisinc.com
farletuzumab
(MORAb-003)
Eisai
Woodcliff Lake, NJ
Phase III
www.eisai.com
G-202
GenSpera
San Antonio, TX
treatment of of hepatocellular
carcinoma
Phase II
www.genspera.com
G-203-2c
(synthesized peptide)
Genus Oncology
Vernon Hills, IL
Phase I
www.genusoncology.com
G-series prophage vaccine

(vitespan)
Agenus
Lexington, MA
treatment of glioma
Phase II
www.agenusbio.com
GL-0810
(HPV-16 cancer vaccine)
Gliknik
Baltimore, MD
treatment of HPV-16-expressing head

and neck squamous cell carcinoma
Phase II
www.gliknik.com
GL-0817
(MAGE-A3 cancer therapeutic
Trojan peptide vaccine)
Gliknik
Baltimore, MD
treatment of MAGE-A3-expressing
head and neck squamous cell
carcinoma
Phase II
www.gliknik.com
GliAtak
gene therapy
Advantagene
Auburndale, MA
treatment of malignant brain tumors
Phase II
www.advantagene.com
glufosfamide
Eleison Pharmaceuticals
St. Petersburg, FL
for treatment of pancreatic cancer

(Fast Track)
Phase III
www.eleison-pharma.com
Havalen
eribulin
Eisai
Woodcliff Lake, NJ
treatment of advanced soft tissue

sarcoma
Phase III
www.eisai.com
ICT-107
(dendritic cancer vaccine)
ImmunoCellular Therapeutics
Calabasas, CA
treatment of glioblastoma or brain

stem glioma
Phase II
www.imuc.com
IMA901
(peptide vaccine)
immatics biotechnologies
Tuebingen, Germany
treatment of renal cell carcinoma in

HLA-A*2-positive patients
Phase III
www.immatics.com
IMGN901
(maytansinoid DM-1-conjugated
mAb)
ImmunoGen
Waltham, MA
treatment of small-cell lung cancer

Phase II
www.immunogen.com
Rare Diseases 2013
13
Cancer
Product Name
Sponsor
Development Status
IRX-2
IRX Therapeutics
New York, NY
neoadjuvant therapy in patients with

squamous cell carcinoma of the head
and neck (Fast Track)
Phase II completed
www.irxtherapeutics.com
Jakafi
ruxolitinib
Incyte
Wilmington, DE

(see also blood)
Phase II
www.incyte.com
lenvatinib
Eisai
Woodcliff Lake, NJ
treatment of follicullar, medullary,

anaplastic cancer and metastatic or
locally advanced papillary thyroid
Phase III
www.eisai.com
Lutathera
DOTA-Tyr3 octreotide
Advanced Accelerator Applications

Saint Genis Pouilly, France
treatment of gastro-entero-pancreatic
neuroendocrine tumors
Phase III
www.adacap.com
masitinib
(AB-1010)
AB Science
Short Hills, NJ
treatment of malignant
gastrointestinal stromal tumors
----------------------------------------treatment of patients with pancreatic
cancer
Phase III
www.ab-science.com
----------------------------------------Phase III
www.ab-science.com
mibefradil
Tau Therapeutics
Charlottesville, VA
Phase I
www.tautherapeutics.com
mifamurtide
Cambridge, MA
treatment of osteosarcoma
Phase III
www.millennium.com
milciclib
Nerviano Medical Sciences

Nerviano, Italy
treatment of thymic epithelial tumors
Phase II
www.nervianoms.com
MK-1775
(WEE1 tyrosine kinase inhibitor)
Merck
Whitehouse Station, NJ
Phase II
www.merck.com
MM-111
(bispecific antibody mAb)
Merrimack Pharmaceuticals
Cambridge, MA
treatment of HER2-expressing
advanced adenocarcinoma of the
stomach and gastroesophageal
junction
----------------------------------------treatment of HER2-expressing
adenocarcinoma of the esophagus
Phase II
www.merrimackpharma.com
----------------------------------------Phase II
MM-398
(nanoliposomal irinotecan)
Merrimack Pharmaceuticals
Cambridge, MA
Phase III
MORAb-004
Eisai
Woodcliff Lake, NJ
Phase II
www.eisai.com
14
Rare Diseases 2013
Cancer
Product Name
Sponsor
Development Status
MORAb-009
(amatuximab)
Eisai
Woodcliff Lake, NJ
Phase II
www.eisai.com
MORAb-066
Eisai
Woodcliff Lake, NJ
Phase I
www.eisai.com
Multikine
leukocyte interleukin
CEL-SCI
Vienna, VA
neoadjuvant therapy in patients with

and neck
Phase III
www.cel-sci.com
Nexavar
sorafenib

Wayne, NJ
treatment of medullary thyroid

cancer, anaplastic thyroid cancer, and
recurrent or metastatic follicular or
papillary thyroid cancer
www.bayerpharma.com
NGF-hTNF
(recombinant fusion protein)
MolMed
Milan, Italy
treatment of malignant pleural

mesothelioma
Phase III
www.molmed.com
niraparib
(ADP-ribose PARP inhibitor)
TESARO
Waltham, MA
Phase III
www.tesarobio.com
onartuzumab
Genentech
treatment of gastric cancer including

gastroesophageal cancer
Phase III
www.gene.com
Oncophage
prophage cancer vaccine
Agenus
Lexington, MA
treatment of renal cell carcinoma

(Fast Track)
Phase III
www.agenusbio.com
Opaxio
paclitaxel poliglumex
Cell Therapeutics
Seattle, WA
Phase II
oregovomab
(B43.14 mAb)
Quest PharmaTech
Edmonton, Canada
treatment of epithelial ovarian cancer
Phase II
www.questpharmatech.com
OSE2101
OSE Pharma
Paris, France
treatment of non-small-cell lung

cancer in patients expressing HLA-A2
Phase III
www.osepharma.com
perifosine
AEterna Zentaris
Basking Ridge, NJ
Phase I
www.aezsinc.com
Perjeta
pertuzumab
Genentech
treatment of gastric cancer
Phase III
www.gene.com
pexastimogene devacirepvec
(Pexa-Vac; JX-594)
Jennerex, Inc.
San Francisco, CA
carcinoma
Phase II
www.jennerex.com
Rare Diseases 2013
15
Cancer
Product Name
Sponsor
Development Status
pimasertib
(MEK inhibitor-1)
EMD Serono
Rockland, MA
Phase II
www.emdserono.com
polyclonal antibody stimulator

(G17DT immunogen)
Cancer Advances
Durham, NC
Phase III
www.canceradvancesinc.com
----------------------------------------Phase III
www.canceradvancesinc.com
----------------------------------------treatment of adenocarcinoma of the

pancreas
Poly-ICLC
Emory University
Atlanta, GA
Oncovir
Washington, DC
University of California
San Diego, CA
treatment of primary brain tumors
Phase II
www.oncovir.com
PV-10
(rose bengal disodium)
Provectus Pharmaceuticals
Knoxville, TN
carcinoma
Phase I
www.provectus.com
ramucirumab
Eli Lilly
Indianapolis, IN

-------------------------------------treatment of hepatocellular
carcinoma
www.lilly.com
----------------------------------------Phase III
www.lilly.com
rindopepimut
Celldex Therapeutics
Phillipsburg, NJ
treatment of EGFRvIII-expressing
glioblastoma multiforme (Fast Track)
Phase II/III
www.celldextherapeutics.com
rucaparib
(PARP inhibitor)
Clovis Oncology
Boulder, CO
Phase II
www.clovisoncology.com
salirasib
(KD032)
Kadmon
Warrendale, PA
treatment of panreatic cancer
Phase II
www.kadmon.com
simtuzumab
(anti-LOXL2 mAb)
Gilead Sciences
Foster City, CA

(see also blood, respiratory)
Phase II
www.gilead.com
Somatuline
lanreotide acetate
Ipsen Biopharmaceuticals
Basking Ridge, NJ
treatment of symptoms associated

with carcinoid syndrome
-------------------------------------treatment of neuroendocrine tumors
Phase III
www.ipsen.com
----------------------------------------Phase III
www.ipsen.com
SP1049C
Supratek Pharma
Montreal, Canada
Phase II
www.supratek.com
squalamine
Ohr Pharmaceutical
New York, NY
treatment of ovarian cancer refractory

or resistant to standard chemotherapy
Phase II
www.ohrpharmaceutical.com
16
Rare Diseases 2013
Cancer
Product Name
Sponsor
Development Status
tegafur/gimeracil/oteracil
Taiho Pharma USA

Princeton, NJ
Phase III
www.taiho.co.jp
telatinib
(VEGFR/PDGFR/KIT inhibitor)
ACT Biotech
San Francisco, CA
Phase II
www.actbiotech.com
telotristat etiprate
(LX1032)
Lexicon Pharmaceuticals
The Woodlands, TX
management of symptoms of
carcinoid syndrome associated with
carcinoid tumor
Phase III
www.lexgen.com
TH-302
(hypoxia-activated prodrug)
EMD Serono
Rockland, MA
Threshold Pharmaceuticals
Phase III
www.emdserono.com
www.thresholdpharm.com
ThermoDox
lyso-thermosensitive liposomal
doxorubicin
Celsion
Lawrenceville, NJ
carcinoma (Fast Track)
Phase III
www.celsion.com
Toca 511 & Toca FC combination
Tocagen
San Diego, CA
Phase I/II
www.tocagen.com
trans sodium crocetinate

(TSC)
Diffusion Pharmaceuticals
Charlottesville, VA
treatment of glioblastoma in
conjunction with radiotherapy
Phase I/II
www.diffusionpharma.com
trebananib
(AMG 386)
Amgen
Thousand Oaks, CA
Phase III
www.amgen.com
TVA-Brain-1
TVAX Biomedical
Lenexa, KS
treatment of primary central nervous

system malignancies
Phase II
www.tvaxbiomedical.com
Tykerb
lapatinib
GlaxoSmithKline
treatment of ErbB2-positive
esophageal cancer
----------------------------------------treatment of ErbB2-positive
gastric cancer
Phase III
www.gsk.com
----------------------------------------Phase III
www.gsk.com
VAL-083
Del Mar Pharmaceuticals

Vancouver, Canada
treatment of malignant gliomas
Phase I/II
www.delmarpharma.com
VB-111
Vascular Biogenics
Or Yehuda, Israel
Phase I/II
www.vblrx.com
Rare Diseases 2013
17
Cancer
Product Name
Sponsor
Development Status
VB4-845
Viventia Biotech
Winnipeg, Canada
treatment of Ep-CAM-positive
and neck (Fast Track)
Phase II
www.viventia.com
veliparib
AbbVie
North Chicago, IL
treatment of epithelial ovarian cancer

in combination with DNA-damaging
agents
Phase II completed
www.abbvie.com
Votrient
pazopanib
GlaxoSmithKline
Phase III
www.gsk.com
VS-6063
(defactinib)
Verastem
Cambridge, MA
Phase II
www.verastem.com
Y-90 clivatuzumab
Immunomedics
Morris Plains, NJ

(Fast Track)
Phase II
www.immunomedics.com
Yondelis
trabectedin
Janssen Research & Development

Raritan, NJ
treatment of patients with ovarian

cancer
----------------------------------------treatment of soft tissue sarcoma
Phase III
www.janssenrnd.com
----------------------------------------Phase III
www.janssenrnd.com
Zybrestat
fosbreyabulin
OXiGENE

(Fast Track)
Phase II
www.oxigene.com
Product Name
Sponsor
Development Status
ACE-536
Acceleron Pharma
Cambridge, MA
Celgene
Summit, NJ
treatment of myelodysplastic
syndromes
(see also genetic)
Phase II
www.acceleronpharma.com
www.celgene.com
Adcetris
brentuximab vedotin
Seattle Genetics
Bothell, WA
treatment of patients with

peripheral T-cell lymphoma, not
otherwise specified (Fast Track)
Phase III
www.seattlegenetics.com
Cancer, Blood
18
Rare Diseases 2013
Cancer, Blood
Product Name
Sponsor
Development Status
AFM-13
(anti-CD30/CD16A mAb)
Affimed Therapeutics
Heidelberg, Germany
treatment of Hodgkin lymphoma
Phase I
www.affimed.com
alisertib
(MLN8237)
Cambridge, MA
treatment of peripheral T-cell

lymphoma
(see also cancer)
Phase III
www.millennium.com
allogeneic mesenchymal
precursor cells
(stem cell therapy)
Mesoblast
New York, NY
treatment of insufficient hematopoietic

stem cell production in patients with
hematologic malignancies who have
failed treatment with conventional
chemotherapy
Phase III
www.mesoblast.com
AT-101
(R-(-)-gossypol)
Ascenta Therapeutics
Malvern, PA
treatment of chronic lymphocytic

leukemia
Phase II
www.ascenta.com
AT9183
Astex Therapeutics
Dublin, CA
treatment of acute myeloid leukemia
Phase I/II completed

www.astx.com
belinostat
Spectrum Pharmaceuticals
Henderson, NV

lymphoma (Fast Track)
Phase II
www.sppirx.com
BI-505
(anti-cellular adhesion
molecule-1 mAb)
BioInvent International
Lund, Sweden
treatment of multiple myeloma
Phase I
www.bioinvent.com
BiovaxID
dasiprotimut-T
Biovest International
Tampa, FL
treatment of follicular lymphoma

(Fast Track)
----------------------------------------treatment of mantle cell lymphoma
Phase III
www.biovest.com
----------------------------------------Phase II
www.biovest.com
BL-8040
(CXCR4 chemokine receptor)
BioLineRx
Jerusalem, Israel
Phase II
www.biolinerx.com
blinatumomab
Amgen
Thousand Oaks, CA
treatment of acute lymphocytic

leukemia
Phase II
www.amgen.com
BP 100-1-01
(liposomal Grb-2)
Bio-Path
Houston, TX
treatment of chronic myelogenous

leukemia
Phase I
www.biopathholdings.com
BT-062
(indatuximab ravtansine)
Biotest Pharmaceuticals
Boca Raton, FL
Phase I/II
www.biotestpharma.com
Rare Diseases 2013
19
Cancer, Blood
Product Name
Sponsor
Development Status
CNDO-109
(activated allogeneic natural killer
cells)
Coronado Biosciences
Burlington, MA
Phase I/II
www.coronadobiosciences.com
CPX-351
(cytarabine/daunorubicin liposome
injection)
Celator Pharmaceuticals
Ewing, NJ
Phase III
www.celatorpharma.com
crenolanib
(CP-868-596)
AROG Pharmaceuticals
Dallas, TX
treatment of acute myelogenous

leukemia
(see also cancer)
Phase II
www.arogpharma.com
Dacogen
decitabine
Eisai
Woodcliff Lake, NJ
Phase II
www.eisai.com
daratumumab

Raritan, NJ

(Fast Track)
Phase I/II
www.janssenrnd.com
darinaparsin
(ZIO-101)
Solasia
Tokyo, Japan
ZIOPHARM Oncology
Boston, MA

lymphoma
Phase I
www.ziopharm.com
dinaciclib
(MK-7965)
Merck

leukemia
Phase III
www.merck.com
elotuzumab
AbbVie
North Chicago, IL
Bristol-Myers Squibb
Princeton, NJ
Phase III
www.abbvie.com
www.bms.com
epratuzumab
Immunomedics
Morris Plains, NJ
treatment of non-Hodgkin
lymphoma
Phase II
EPZ-5676
(DOT1L protein inhibitor)
Epizyme
Cambridge, MA
treatment of acute lymphoblastic

leukemia (ALL)
Phase I
www.epizyme.com
Estybon
rigosertib
Newton, PA
syndromes
(see also cancer)
Phase III
www.onconova.com
forodesine
(PNP inhibitor)
BioCryst Pharmaceuticals
Durham, NC
Mundipharma
Cambridge, United Kingdom
treatment of T-cell non-Hodgkin

lymphoma
Phase II
www.biocryst.com
www.mundipharma.com
20
Rare Diseases 2013
Cancer, Blood
Product Name
Sponsor
Development Status
ibrutinib
Janssen Biotech
Horsham, PA
Pharmacyclics
Sunnyvale, CA

leukemia (Fast Track)
----------------------------------------treatment of multiple myeloma
www.pharmacyclics.com
----------------------------------------Phase III
----------------------------------------Phase II
idelalisib
(PI3K delta inhibitor)
Gilead Sciences
Foster City, CA

leukemia
Phase III
www.gilead.com
IMGN901
(maytansinoid DM1-conjugated
mAb)
ImmunoGen
Waltham, MA

(see also cancer)
Phase I
www.immunogen.com
inotuzumab ozogamicin
(CD22-targeted cytotoxic agent)
Pfizer
New York, NY
treatment of B-cell acute

lymphoblastic leukemia
Phase III
www.pfizer.com
interleukin-21
(rIL-21)
Princeton, NJ
treatment of stage II (T4), III or IV

malignant melanoma
Phase I
www.bms.com
IPI-145
(PI3K / inhibitor)
Infinity Pharmaceuticals
Cambridge, MA
Phase II
www.inpi.com
ISF35
(gene encoding chimeric CD40
ligand)
Memgen
San Diego, CA

leukemia
Phase II
www.memgen.com
lestaurtinib
(CEP-701)
Teva Pharmaceutical
North Wales, PA
Phase II
www.tevapharm.com
midostaurin
(PKC412)
East Hanover, NJ

(see also other)
Phase III
www.novartis.com
milatuzumab
Immunomedics
Morris Plains, NJ

leukemia
Phase I/II
MLN4924
(NAE inhibitor)
Cambridge, MA

leukemia
----------------------------------------treatment of myelodysplastic
syndromes
Phase I
www.millennium.com
----------------------------------------Phase I
www.millennium.com
MLN9708
(ixazomib citrate)
Cambridge, MA

(see also other)
Phase III
www.millennium.com
Rare Diseases 2013
21
Cancer, Blood
Product Name
Sponsor
Development Status
mocetinostat
(MGCD0103)
Mirati Therapeutics
San Diego, CA
treatment of Hodgkin lymphoma
Phase II
www.mirati.com
mogamulizumab
Kyowa Hakko Kirin Pharma

Princeton, NJ
treatment of patients with cutaneous

T-cell lymphoma
----------------------------------------treatment of adult T-cell leukemia/
lymphoma (ATLL)
----------------------------------------treatment of peripheral T-cell
lymphoma
Phase III
www.kyowa-kirin-pharma.com
----------------------------------------Phase II
----------------------------------------Phase II
moxetumomab pasudotox
AstraZeneca
Wilmington, DE
MedImmune
Gaithersburg, MD
treatment of hairy cell leukemia
Phase III
www.astrazeneca.com
NiCord
stem cell therapy
Gamida Cell
Jerusalem, Israel
for use as hematopoietic support

in patients with myelodysplastic
syndromes
Phase I/II
www.gamida-cell.com
obinutuzumab
Genentech

leukemia
----------------------------------------treatment of diffuse large B-cell
lymphoma
www.gene.com
----------------------------------------Phase III
www.gene.com
ocaratuzumab
MENTRIK Biotech
Dallas, TX
Phase II
www.mentrik.com
otlertuzumab
(anti-CD37 mAb)
(TRU-016)
Emergent BioSolutions
Rockville, MD

leukemia
Phase II
www.emergentbiosolutions.com
OXi4503
(combretastatin A 1 diphosphate)
OXiGene

leukemia
Phase I
www.oxigene.com
panobinostat
East Hanover, NJ
Phase III
www.novartis.com
plitidepsin
(cyclic depsipeptide)
PharmaMar USA
New York, NY
Phase III
www.pharmamar.com
22
Rare Diseases 2013
Cancer, Blood
Product Name
Sponsor
Development Status
quizartinib
(FLT3 inhibitor)
Ambit Biosciences
San Diego, CA
Phase II
www.ambitbio.com
Revlimid
lenalidomide
Celgene
Summit, NJ

leukemia
----------------------------------------treatment of diffuse large B-cell
lymphoma
----------------------------------------treatment of follicular lymphoma
Phase III
www.celgene.com
----------------------------------------Phase III
www.celgene.com
----------------------------------------Phase III
www.celgene.com
sapacitabine
Cyclacel
Berkeley Heights, NJ

leukemia
----------------------------------------treatment of myelodysplastic
syndromes
Phase III
www.cyclacel.com
----------------------------------------Phase II
www.cyclacel.com
SHP-141
(HDACi inhibitor)
Shape Pharmaceuticals
Cambridge, MA
treatment of cutaneous T-cell

lymphoma
Phase I
www.shapepharma.com
siltuximab

Raritan, NJ
treatment of Castlemans disease
www.janssenrnd.com
----------------------------------------Phase II
www.janssenrnd.com

SL-401
Stemline Therapeutics
New York, NY
Phase I/II
www.stemline.com
SNS01-T
(DNA plasmid vector)
Senesco Technologies
Bridgewater, NJ
treatment of diffuse large B-cell

lymphoma
Phase I/II
www.senesco.com
----------------------------------------Phase I/II
www.senesco.com
----------------------------------------Phase I/II
www.senesco.com

StemEx
carlecortemcel-L
Gamida Cell
Jerusalem, Israel
Rare Diseases 2013
for use as hematopoietic support in

patients with relapsed or refractory
hematologic malignancies who are
receiving high-dose therapy
(Fast Track)
Phase III
www.gamida-cell.com
23
Cancer, Blood
Product Name
Sponsor
Development Status
Synribo
omacetaine mepesuccinate
Teva Pharmaceutical
North Wales, PA
syndromes
Phase II
www.tevapharm.com
tabalumab
Eli Lilly
Indianapolis, IN
Phase II/III
www.lilly.com
Telintra
ezatiostat
Telik
Palo Alto, CA
syndromes
Phase II
www.telik.com
tosedostat
Cell Therapeutics
Seattle, WA
Chroma Therapeutics
Oxon, United Kingdom
Phase II
ublituximab
(TG-1101)
TG Therapeutics
New York, NY

leukemia
----------------------------------------treatment of nodal marginal zone
lymphoma
----------------------------------------treatment of extranodal marginal
zone lymphoma (mucosa-associated
lymphatic tissue, MALT)
Phase I/II
www.tgtherapeutics.com
----------------------------------------Phase /II
----------------------------------------Phase I/II
veltuzumab
Immunomedics
Morris Plains, NJ

leukemia
Phase I/II
Vidaza
azacitidine
Celgene
Summit, NJ
Phase III
www.celgene.com
vosaroxin
(SNS-595)
Sunesis Pharmaceuticals

(Fast Track)
Phase III
www.sunesis.com
Xalkori
crizotinib
Pfizer
New York, NY
treatment of anaplastic large-cell

lymphoma
Phase I
www.pfizer.com
24
Rare Diseases 2013
Cancer, Related Conditions

Product Name
Sponsor
Development Status
Captisol-Enabled melphalan
Henderson, NV
high dose conditioning treatment

prior to hematopoietic progenitor
(stem) cell transplantation
Phase II/III
www/sppirx.com
E-0316
(naloxone topical)
Elorac
Vernon Hills, IL
topical treatment of pruritus

associated with mycosis fungoides
(Fast Track)
Phase II
www.eloracpharma.com
FT-1050
(stem cell stimulant)
Fate Therapeutics
San Diego, CA
enhancement of stem cell

engraftment through ex-vivo
treatment of human allogeneic
hematopoietic stem cells (treatment
of neutropenia, thrombocytopenia,
lymphopenia, and anemia)
Phase II
www.fatetherapeutics.com
GC-4419
(superoxide dismutase mimetic)
Galera Therapeutics
Malvern, PA
prevention of radiation- or
chemotherapy-induced oral mucositis
in cancer patients
Phase I completed
www.galeratx.com
LG631
(stem cell gene therapy)
Lentigen
Gaithersburg, MD
for bone marrow protection in the

Phase I
www.lentigen.com
momelotinib
(JAK inhibitor)
Gilead Sciences
Foster City, CA
treatment of myelofibrosis
Phase II
www.gilead.com
Pomalyst
pomalidomide
Celgene
Summit, NJ
treatment of persons with myeloproliferative neoplasm-associated

myelofibrosis and anemia who are red
blood cell tranfusion dependent
(see also blood)
Phase III
www.celgene.com
sodium thiosulfate (STS)
Adherex Technologies
prevention of platinum-induced
ototoxicity in pediatric patients
Phase III
www.adherex.com
Xerecept
corticotropin-releasing factor
Celtic Pharma
Hamilton, Bermuda
treatment of peritumoral brain edema
Phase III
www.celticpharma.com
Xgeva
denosumab
Amgen
Thousand Oaks, CA
treatment of hypercalcemia of
malignancy
Phase II
www.amgen.com
Rare Diseases 2013
25
Cancer, Skin
Product Name
Sponsor
Development Status
Abraxane
paclitaxel protein-bound particles
for injection suspension
(albumin-bound)
Celgene
Summit, NJ
treatment of stage IIB to IV melanoma

(see also cancer)
Phase III
www.celgene.com
Adcetris
brentuximab vedotin
Seattle Genetics
Bothell, WA
treatment of mycosis fungoides

Phase III
www.seattlegenetics.com
ADI-PEG20
(pegylated arginine deiminase)
Polaris Pharmaceuticals
San Diego, CA
treatment of invasive malignant

melanoma
(see also cancer)
Phase II
www.polarispharma.com
astuprotimut-R
GlaxoSmithKline
treatment of MAGE-A3-positive stages

IIB to IV malignant melanoma
(see also cancer)
Phase III
www.gsk.com
Cavatak
coxsackievirus A21
Viralytics
Sydney, Australia
treatment of stage II (T4), stage III,

and stage IV melanoma
Phase II
www.viralytics.com
FANG Vaccine
autologous tumor cell vaccine
Gradalis
Carrollton, TX
treatment of stage IIB to IV melanoma

(see also cancer)
Phase II
www.gradalisinc.com
Marqibo
vincristine liposomal
Henderson, NV
treatment of metastatic uveal

melanoma
Phase II
www.sppirx.com
melapuldencel-T
(autologous dendritic cell vaccine)
California Stem Cell

Irvine, CA
treatment of stage IIIB through IV

metastatic melanoma
Phase II
www.californiastemcell.com
MK-3475
(lambrolizumab)
Merck
treatment of stage IIB through IV

malignant melanoma
Phase II
www.merck.com
nivolumab
(anti-PD-1 mAb)
Princeton, NJ
treatment of stage IIB to IV

melanoma (Fast Track)
Phase III
www.bms.com
POL-103A
(polyvalent melanoma vaccine)
Polynoma
San Diego, CA
treatment of stage IIB to stage IV

melanoma
Phase III
www.polynoma.com
PV-10
(rose bengal disodium)
Provectus Pharmaceuticals
Knoxville, TN
treatment of metastatic melanoma

(see also cancer)
Phase II
www.pvct.com
talimogene laherparepvec
Amgen
Thousand Oaks, CA
treatment of stage IIB-stage IV

melanoma
Phase III
www.amgen.com
trametinib and dabrafenib
GlaxoSmithKline
treatment of stage IIB through IV

melanoma
www.gsk.com
26
Rare Diseases 2013
Cancer, Skin
Product Name
Sponsor
Development Status
veliparib
AbbVie
North Chicago, IL
treatment of malignant melanoma

stages IIB through IV
(see also cancer)
Phase II
www.abbvie.com
Cardiovascular Diseases
Product Name
Sponsor
Development Status
ixmyelocel-T
Aastrom Biosciences
Ann Arbor, MI
treatment of dilated cardiomyopathy
Phase II
www.aastrom.com
plasmin (human)
Grifols Therapeutics
Los Angeles, CA
treatment of acute peripheral arterial

occlusion
Phase II
www.grifolsusa.com
SRM003
Shire
Wayne, PA
prevention of arteriovenous fistula or

arteriovenous graft failure in patients
with end-stage renal disease
receiving hemodialysis or preparing
for hemodialysis (Fast Track)
Phase II
www.shire.com
tafamidis meglumine
Pfizer
New York, NY
treatment of symptomatic
transthyretin (TTR) amyloid
cardiomyopathy
(see also genetic)
Phase III
www.pfizer.com
Product Name
Sponsor
Development Status
Aes-210
(clotrimazole)
AesRx
Newton, MA
topical treatment of children and

adults with pouchitis
Phase II
www.aesrx.com
alicaforsen
Atlantic Healthcare
Essex, United Kingdom
treatment of pouchitis (Fast Track)
Phase III
www.atlantichc.com
budesonide
oral suspension
Meritage Pharma
San Diego, CA
treatment of patients with

eosinophilic esophagitis
Phase II
www.meritagepharma.com
EUR-100
(fluticasone propionate)
Aptalis Pharma US
Bridgewater, NJ
treatment of pediatric and adult

Phase I/II
www.aptalispharma.com
Digestive Diseases
Rare Diseases 2013
27
Digestive Diseases
Product Name
Sponsor
Development Status
Humira
adalimumab
AbbVie
North Chicago, IL
treatment of pediatric Crohns disease
Phase III
www.abbvie.com
Lialda
mesalamine controlled release
Shire
Wayne, PA
treatment of ulcerative colitis in

pediatric patients
Phase I
www.shire.com
metronidazole 10% topical

ointment
SLA Pharma
Liestal, Switzerland
topical treatment of active perianal

Crohns disease
Phase II
www.slapharma.com
naltrexone low-dose
TNI BioTech
Bethesda, MD
treatment of Crohns disease in

pediatric patients
Phase II
www.tnibiotech.com
orBec
beclomethasone oral
Soligenix
Princeton, NJ
treatment of gastrointestinal
symptoms with chronic graft versus
host disease in patients
undergoing allogeneic hematopoietic
cell transplantation
Phase I
www.soligenix.com
reslizumab
Teva Pharmaceutical
North Wales, PA
treatment of children with

Phase III
www.tevapharm.com
SGX203
Soligenix
Princeton, NJ
treatment of pediatric patients with

ulcerative colitis
Phase I
www.soligenix.com
Simponi
golimumab
Janssen Biotech
Horsham, PA
treatment of pediatric ulcerative

colitis
(see also autoimmune)
Phase I
Soliris
eculizumab
Alexion Pharmaceuticals
Cheshire, CT
treatment of Shiga toxin-producing

Escherichia coli hemolytic uremic
syndrome
(see also eye)
Phase II
www.alxn.com
Uceris
budesonide
Santarus
San Diego, CA
treatment of ulcerative colitis in

pediatric patients aged 0 through
16 years
Phase II
www.santarus.com
28
Rare Diseases 2013
Eye Disorders
Product Name
Sponsor
Development Status
CODA-001
(antisense oligonucleotide)
CoDa Therapeutics
San Diego, CA
treatment of persistent corneal

epithelial defects
Phase II
www.codatherapeutics.com
EryDex
erythrocyte-encapsulated
dexamethasone
EryDel
Urbino, Italy
treatment of ataxia-telangiectasia
Phase I
www.erydel.com
gevokizumab
(XOMA 052)
XOMA
Berkeley, CA
treatment of non-infectious
intermediate, posterior or pan uveitis,
or chronic non-infectious anterior
uveitis
Phase III
www.xoma.com
LIPO-102
(salmeterol/fluticasone)
Lithera
San Diego, CA
treatment of symptomatic
exophthalmos associated with thyroid
related eye disease
Phase II
www.lithera.com
Mitosol
mitomycin
Mobius Therapeutics
St. Louis, MO
prevention of recurrence of pterygium

after its surgical excision
www.mobiustherapeutics.com
NT-501 CNTF
(ciliary neurotrophic growth factor)
Neurotech USA
Cumberland, RI
treatment of retinitis pigmentosa

(Fast Track)
----------------------------------------treatment of macular telangiectasia
type 2 (MacTel)
Phase II/III
www.neurotechusa.com
----------------------------------------Phase I
www.neurotechusa.com
plasminogen concentrate
(human)
Kedrion
Barga, Italy
treatment of ligneous conjunctivitis
Phase II/III
www.kedrion.com
QLT091001
(synthetic retinoid)
QLT
Menlo Park, CA

(see also genetic)
Phase I
www.qltinc.com
QPI-1007
(synthetic double-stranded siRNA)
Quark Pharmaceuticals
Fremont, CA
treatment of ischemic optic

neuropathy
Phase I
www.quarkpharma.com
retinal pigment epithelium

cell therapy
Advanced Cell Technology

Santa Monica, CA
treatment of Stargardts macular

dystrophy
Phase I/II
www.advancedcell.com
RV001
(teprotumumab)
River Vision
New York, NY
treatment of active (dynamic) phase

Graves orbitopathy
Phase II
sirolimus opthalmic
(DE-109)
Santen
Emeryville, CA
treatment of chronic/refractory
anterior noninfectious uveitis,
noninfectious intermediate uveitis,
noninfectious panuveitis and
non-infectious uveitis affecting the
posterior of the eye (NICUPS)
Phase III
www.santen.com
Rare Diseases 2013
29
Eye Disorders
Product Name
Sponsor
Development Status
Soliris
eculizumab
Cheshire, CT
treatment of neuromyelitis optica

(see also digestive)
Phase II
www.alxn.com
StarGen
gene therapy
Sanofi US
Bridgewater, NJ
treatment of Stargardt disease
Phase I/II
www.sanofi.com
UshStat
gene therapy
Sanofi US
Bridgewater, NJ

associated with Usher syndrome
1B gene defect
Phase I/II
www.sanofi.com
Vibex/KXL System
riboflavin ophthalmic solution
Avedro
Waltham, MA
treatment of corneal ectasia following

refractive surgery
----------------------------------------treatment of keratoconus
www.avedro.com
----------------------------------------application submitted
www.avedro.com
Product Name
Sponsor
Development Status
AAV1-FS344
(gene therapy-delivered myostatin
inhibitor)
Milo Biotechnology
Cleveland, OH
treatment of Duchenne and Becker

muscular dystrophy
Phase I/II
www.milobiotechnology.com
ABH001
human fibroblast-derived
dermal substitute
Shire
Wayne, PA
treatment of epidermolysis bullosa

(Fast Track)
Phase III
www.shire.com
Abilify
aripiprazole
Otsuka Pharmaceutical
Rockville, MD
treatment of Tourettes syndrome
Phase III
www.otsuka.com
ACE-536
Acceleron Pharma
Cambridge, MA
Celgene
Summit, NJ
treatment of B-thalassemia
Phase II
www.acceleronpharma.com
www.celgene.com
Aeroquin
levofloxacin
Aptalis Pharmaceuticals
Birmingham, AL
treatment of pulmonary infections

due to Pseudomonas aeruginosa and
other bacteria in patients with cystic
fibrosis
Phase III
www.aptalispharma.com
Aes-103
AesRx
Newton, MA
treatment of sickle cell disease
Phase II
www.aesrx.com
Genetic Disorders
30
Rare Diseases 2013
Genetic Disorders
Product Name
Sponsor
Development Status
afamelanotide
Clinuvel Pharmaceuticals
New York, NY
treatment of erythropoietic
porphyrias
Phase III
www.clinuvel.com
ALN-TTR02/GENZ438027
(siRNA oligonucleotide)
Alnylam Pharmaceuticals
Cambridge, MA
Sanofi US (Genzyme)
Bridgewater, NJ
treatment of familial amyloidotic

polyneuropathy
Phase II
www.alnylam.com
www.sanofi.com
alpha1-proteinase inhibitor
(human)
Grifols Therapeutics
Los Angeles, CA
treatment of cystic fibrosis
Phase II
www.grifols.com
Alprolix
recombinant factor IX fusion
protein
Biogen Idec
Weston, MA
for the control and prevention of

hemorrhagic episodes in patients
with hemophilia B (congenital factor
IX deficiency or Christmas disease)
(Fast Track)
www.biogenidec.com
ALXN1101
(cPMP replacement therapy)
Cheshire, CT
treatment of molybdenum cofactor

deficiency type A (MoCD)
Phase I
www.alxn.com
AMG 145
(evolocumab)
Amgen
Thousand Oaks, CA
treatment of homozygous familial

hypercholesterolemia
Phase III
www.amgen.com
AMT060
(factor IX gene therapy)
uniQure
Amsterdam, Netherlands
treatment of hemophilia B
Phase I/II
www.uniqure.com
arbaclofen
(STX209)
Seaside Therapeutics
Cambridge, MA
treatment of the behavioral

abnormalities associated with fragile
X syndrome
Phase III
www.seasidetherapeutics.com
Arikace
liposomal amikacin for inhalation
Insmed
Monmouth Junction, NJ
treatment of bronchopulmonary
Pseudomonas aeruginosa infections in
cystic fibrosis patients
(see also infectious)
Phase III
www.insmed.com
asfotase alfa
Cheshire, CT
treatment of hypophosphatasia
(Fast Track)
Phase II/III
www.alxn.com
Rare Diseases 2013
31
Genetic Disorders
Product Name
Sponsor
Development Status
ataluren
(PTC124)
PTC Therapeutics
South Plainfield, NJ
treatment of muscular dystrophy

resulting from premature stop
mutations in the dystrophin gene
(Fast Track)
----------------------------------------for use in the treatment of cystic
fibrosis resulting from a nonsense
(premature stopcodon) mutation in
the cystic fibrosis transmembrane
conductance regulatory gene
(Fast Track)
Phase III
www.ptcbio.com
----------------------------------------Phase III
www.ptcbio.com
BAX111
(rhVWF)
Baxter International
Deerfield, IL
treatment of von Willebrand disease
Phase III
www.baxter.com
beloranib
Zafgen
Cambridge, MA
treatment of Prader-Willi syndrome
Phase II
www.zafgen.com
BMN-701
(IGF2-GAA)
BioMarin Pharmaceutical
San Rafael, CA
treatment of Pompe disease
Phase II
www.bmrn.com
Bronchitol
mannitol inhalation
Pharmaxis
Exton, PA
for use to facilitate clearance of mucus

in patients with bronchiectasis and in
patients with cystic fibrosis at risk for
bronchiectasis (Fast Track)
www.pharmaxis.com
CEQ508
(RNA interference)
Marina Biotech
Bothell, WA
treatment of familial adenomatous

polyposis
Phase I/II
www.marinabio.com
ciprofloxacin dry powder

inhalation (DPI)

Wayne, NJ
East Hanover, NJ
management of pulmonary infection

due to Pseudomonas aeruginosa in
cystic fibrosis patients
Phase II
www.bayerpharma.com
www.novartis.com
CPP-IX/sul
(eflornithine plus sulindac)
Cancer Prevention Pharmaceuticals

Tucson, AZ
treatment of familial adenomatous

polyposis
Phase II
www.canprevent.com
CSL654
(rIX-FP)
CSL Behring
King of Prussia, PA
treatment of patients with congenital

factor IX deficiency (hemophilia B)
Phase II/III
www.cslbehring.com
CSL689
(rVIIa-FP)
CSL Behring
King of Prussia, PA
treatment and prophylaxis of

bleeding episodes in patients with
congenital hemophilia and inhibitors
to coagulation factor VIII or IX
----------------------------------------treatment of congenital factor VII
deficiency which includes treatment
and prophylaxis of bleeding episodes
in patients with congenital factor VII
deficiency
Phase I
www.cslbehring.com
32
----------------------------------------Phase I
www.cslbehring.com
Rare Diseases 2013
Genetic Disorders
Product Name
Sponsor
Development Status
drisapersen
(GSK2402968)
GlaxoSmithKline
Prosensa Therapeutics
Leiden, Switzerland
treatment of Duchenne muscular

dystrophy
Phase III
www.gsk.com
duvoglustat
(AT2220)
Amicus Therapeutics
Cranbury, NJ
treatment of Pompe disease
Phase II
www.amicusrx.com
ecopipam
(PSYRX101)
Psyadon Pharmaceuticals
Germantown, MD
symptomatic treatment of self

injurious behaviors in patients with
Lesch-Nyhan disease
----------------------------------------treatment of Tourettes syndrome in
children 0-16 years old
Phase III
www.psyadonrx.com
----------------------------------------Phase II
www.psyadonrx.com
EDI1200
Edimer Pharmaceuticals
Cambridge, MA
treatment of X-linked hypohidrotic

ectodermal dysplasia (Fast Track)
Phase II
www.edimerpharma.com
eliglustat tartrate
(glucosylceramide synthase
inhibitor)
Sanofi US (Genzyme)
Bridgewater, NJ
treatment of Gaucher disease
Phase III
www.sanofi.com
Eloctate
recombinant human factor VIII-FC
Biogen Idec
Weston, MA
treatment of hemophilia A
(Fast Track)
www.biogenidec.com
EPI-743
(vatiquinone)
Dainippon Sumitomo Pharma

Osaka, Japan
Edison Pharmaceuticals
Mountain View, CA
treatment of inherited mitochondrial

respiratory chain diseases
Phase II/III
www.ds-pharma.com
www.edisonpharma.com
eteplirsen
Sarepta Therapeutics
Cambridge, MA

dystrophy (Fast Track)
Phase II
www.sareptatherapeutics.com
EXR-101
(pyrimethamine)
ExSAR
treatment of GM-2 gangliosidoses

(Tay-Sachs disease and Sandhoff
disease)
Phase II
www.exsar.com
EXR-202
(ambroxol)
ExSAR
treatment of Gaucher disease
Phase I
www.exsar.com
GNE lipoplex
Gradalis
Carrollton, TX
treatment of hereditary inclusion

body myopathy-2
Phase I
www.gradalisinc.com
GSK2696273
(ex-vivo stem cell gene therapy)
GlaxoSmithKline
MolMed
Milan, Italy
treatment of severe combined

immunodeficiency due to adenosine
deaminase deficiency
Phase III
www.gsk.com
Rare Diseases 2013
33
Genetic Disorders
Product Name
Sponsor
Development Status
GZ402665
(rhASM)
Sanofi US (Genzyme)
Bridgewater, NJ
treatment of acid sphingomyelinase

deficiency (Niemann-Pick disease)
Phase I
www.sanofi.com
halofuginone hydrobromide
Halo Therapeutics
Newton, MA

dystrophy
Phase I/II
www.halotherapeutics.com
HGT1110
(cerebroside sulfatase)
Shire
Wayne, PA
treatment of metachromatic
leukodystrophy
Phase I/II
www.shire.com
HGT1410
(sulfamidase enzyme
replacement therapy)
Shire
Wayne, PA
for treatment of Sanfilippo syndrome

(MPS IIIA)
Phase I/II
www.shire.com
HQK-1001
HemaQuest Pharmaceuticals
San Diego, CA
treatment of beta thalassemia
Phase II
www.hemaquest.com
----------------------------------------Phase II
www.hemaquest.com
----------------------------------------treatment of sickle cell disease

human-cl rhFVIII
Octapharma USA
Hoboken, NJ
immune tolerance induction in

hemophilia A patients with inhibitors
Phase III
www.octapharma.com
human coagulation factor X
Bio Products Laboratory

Herst, United Kingdom
treatment of hereditary factor X

deficiency
Phase III
www.bpl.co.uk
idebenone
Santhera Pharmaceuticals
Liestal, Switzerland

dystrophy
----------------------------------------treatment of mitochondrial
myopathy, encephalopathy, lactic
acidosis with stroke-like episodes
syndrome (MELAS)
Phase III
www.santhera.com
----------------------------------------Phase II
www.santhera.com
ISIS-TTRRX
(antisense oligonucleotides)
Isis Pharmaceuticals
Carlsbad, CA
treatment of familial amyloid

polyneuropathy (Fast Track)
Phase III
www.isispharm.com
L-glutamine
Emmaus Medical
Torrance, CA

(Fast Track)
Phase III
www.emmausmedical.com
LCI699
(aldosterone synthase inhibitor)
East Hanover, NJ
treatment of Cushings disease
Phase II
www.novartis.com
LentiD
gene therapy
bluebird bio
Cambridge, MA
treatment of andrenoleukodystrophy
Phase II/III
www.bluebirdbio.com
34
Rare Diseases 2013
Genetic Disorders
Product Name
Sponsor
Development Status
LentiGlobin
gene therapy
bluebird bio
Cambridge, MA
treatment of B-thalassemia major and

intermediate
Phase I/II
www.bluebirdbio.com
LUM001
(sodium bile acid cotransporter
inhibitor)
Lumena Pharmaceuticals
San Diego, CA
treatment of alagille syndrome
Phase II
www.lumenapharma.com
----------------------------------------Phase II
----------------------------------------Phase I
----------------------------------------Phase I
----------------------------------------treatment of primary biliary cirrhosis

----------------------------------------treatment of primary sclerosing
cholangitis
----------------------------------------treatment of progresssive familial
intrahepatic cholestasis
mavoglurant
(AFQO56)
East Hanover, NJ
treatment of fragile X syndrome
Phase II/III
www.novartis.com
migalastat
Amicus Therapeutics
Cranbury, NJ
GlaxoSmithKline
treatment of Fabry disease
Phase III
www.amicusrx.com
www.gsk.com
Mirapex
pramipexole
Boehringer-Ingelheim Pharmaceuticals
Ridgefield, CT
treatment of Tourette syndrome in

pediatric patients
Phase III completed

www.boehringer-ingelheim.com
MST-188
(purified poloxamer 188)
Mast Therapeutics
San Diego, CA
treatment of sickle cell anemia

(Fast Track)
Phase III
www.masttherapeutics.com
NKTT120
(rhIgG1k mAb)
NKT Therapeutics
Waltham, MA
Phase I
www.nktrx.com
NN7999
(N9-GP)
Novo Nordisk
Princeton, NJ
routine prophylactic administration

for prevention of bleeding in patients
with hemophilia B (Christmas disease)
Phase III
www.novonordisk.com
NovoThirteen
catridecacog (rFXIII)
Novo Nordisk
Princeton, NJ
for the prevention of bleeding

associated with congenital FXIII
deficiency
----------------------------------------treatment of congenital FXIII
deficiency
www.novonordisk.com
treatment and prevention of episodic

bleeding in patients with inhibitor
antibodies to human coagulation
factor VIII (Fast Track)
Phase III
www.baxter.com
OB-1
(recombinant porcine factor VIII)
Baxter International
Deerfield, IL
Rare Diseases 2013
www.novonordisk.com
35
Genetic Disorders
Product Name
Sponsor
Development Status
PEG-PAL
(PEGylated recombinant
phenylalanine ammonia lyase)
San Rafael, CA
treatment of hyperphenylalaninemia
Phase III
www.bmrn.com
pegylated carboxyhemoglobin
Sangart
San Diego, CA
treatment of acute painful sickling

crises in patients with sickle cell
disease
Phase I
www.sangart.com
PF-05280602
(rhFVIIa)
Catalyst Biosciences
Pfizer
New York, NY
routine prophylaxis to prevent

bleeding episodes in patients with
hemophilia A and B patients with
inhibitors
Phase I
www.catalystbiosciences.com
www.pfizer.com
pradigastat
(LCQ908)
East Hanover, NJ
treatment of hypertriglyceridemia in
the setting of type I
hyperlipoproteinemia, also known as
familial chylomicronemia syndrome
Phase III
www.novartis.com
pridopidine
Teva Pharmaceutical
North Wales, PA
treatment of Huntingtons disease
Phase II/III
www.tevapharm.com
QLT091001
(synthetic retinoid)
QLT
Menlo Park, CA
treatment of Leber congenital

amaurosis (LCA) due to inherited
mutations in RPE65 (encoding the
protein retinal pigment epithelial
protein 65) or LRAT (encoding the
enzyme lecithin:retinol
acyltransferase) genes
(see also eye)
Phase I
www.qltinc.com
rAAV1-CB-hAAT
(adeno-associated
virus vector-mediated gene
therapy)
AGTC
Alachua, FL
treatment of alpha1-antitrypsin
deficiency
Phase II
www.agtc.com
rAAV2-CB-hRPE65
(gene therapy)
AGTC
Alachua, FL
treatment of type II Lebers congenital

amaurosis
Phase II
www.agtc.com
RG2833
(HDAC3 inhibitor)
Repligen
Waltham, MA
treatment of Friedreichs ataxia
Phase I
www.repligen.com
RG7090
Roche
Nutley, NJ
treatment of fragile X syndrome
Phase II
www.roche.com
36
Rare Diseases 2013
Genetic Disorders
Product Name
Sponsor
Development Status
RGN-137 topical
(thymosin beta 4)
RegeneRx Biopharmaceuticals
Rockville, MD
treatment of epidermolysis bullosa
Phase II completed
www.regenerx.com
rivipansel
(GMI-1070)
GlycoMimetics
Gaithersburg, MD
Pfizer
New York, NY
treatment of vaso-occlusive crisis in

patients with sickle cell disease
(Fast Track)
Phase II
www.glycomimetics.com
www.pfizer.com
Ruconest
conestat alfa
Santarus
San Diego, CA
treatment of (acute attacks of)

angioedema caused by hereditary
or acquired C1-esterase inhibitor
deficiency
----------------------------------------prophylactic treatment of
angioedema caused by hereditary
or acquired C1-esterase inhibitor
deficiency
www.santarus.com
----------------------------------------Phase II
www.santarus.com
SD-101
(allantoin)
Scioderm
Durham, NC
treatment of skin blistering and

erosions associated with inherited
epidermolysis bullosa
Phase II
www.sderm.com
sebelipase alfa
Synageva BioPharma
Lexington, MA
treatment of lysosomal acid lipase

deficiency (Fast Track)
Phase III
www.synageva.com
SelG2
(humanized IgG2 antibody)
Selexys Pharmaceuticals
Oklahoma City, OK
treatment of vaso-occlusive crisis in

patients with sickle cell disease
Phase II
www.selexys.com
S-nitroglutathione
(N6022)
N30 Pharmaceuticals
Boulder, CO
management of cystic fibrosis

patients to improve airway clearance
and to improve or stabilize pulmonary
function
Phase I
www.n30pharma.com
Spiriva HandiHaler
tiotropium bromide
Boehringer Ingelheim Pharmaceuticals

Ridgefield, CT
to improve pulmonary function in

conjunction with standard therapy
in the management of patients with
cystic fibrosis
Phase III
tafamidis meglumine
Pfizer
New York, NY
treatment of familial amyloid

polyneuropathy
(see also cardiovascular)
www.pfizer.com
TD-101
(small interfering RNA)
TransDerm
Santa Cruz, CA
treatment of pachyonychia congenita
Phase I
www.transderm.com
Rare Diseases 2013
37
Genetic Disorders
Product Name
Sponsor
Development Status
UX001
(sailic acid extended release)
Ultragenyx Pharmaceutical
Novato, CA
treatment of hereditary inclusion

body myopathy
Phase II
www.ultragenyx.com
Vimizim
elosulfase alfa
Novato, CA
treatment of mucopolysacharidosis
type IV A (Morquio A syndrome)
www.bmrn.com
VX-809/ivacaftor
Vertex Pharmaceuticals
Cambridge, MA
treatment of cystic fibrosis

(Fast Track)
Phase III
www.vrtx.com
Xenobilox
chenodeoxycholic acid
Sigma-Tau Pharmaceuticals
Gaithersburg, MD
treatment of cerebrotendinous
xanthomatosis
www.sigmatau.com
Zavesca
miglustat
Actelion Pharmaceuticals
treatment of the neurological

manifestations of Niemann-Pick
disease, type C
www.actelion.com
Product Name
Sponsor
Development Status
BMN-111
(modified recombinant human
C-type natriuretic peptide)
San Rafael, CA
treatment of achondroplasia
Phase I
www.bmrn.com
macimorelin acetate
(AEZS-130)
AEterna Zentaris
diagnosis of growth hormone

deficiency
Phase III
www.aezsinc.com
MOD-4023
(hGH-CTP)
PROLOR Biotech
Ness Ziona, Israel
treatment of growth hormone

deficiency
Phase III
www.prolor-biotech.com
octreotide (oral)
Chiasma
Jerusalem, Israel
for the oral treatment of acromegaly
Phase I
www.chiasmapharma.com
Signifor LAR
pasireotide
East Hanover, NJ
treatment of acromegaly
Phase III
www.novartis.com
testosterone undecanoate (oral)
SOV Therapeutics
Morrisville, NC
treatment of constitutional delay in

growth and puberty in adolescent
boys (14-17 yrs of age)
Phase II
www.sovtherapeutics.com
Growth Disorders
38
Rare Diseases 2013
Growth Disorders
Product Name
Sponsor
Development Status
triptorelin pamoate
(Debio 8206 CPP)
Debiopharm
Lausanne, Switzerland
treatment of central precocious

puberty
Phase III
www.debiopharm.com
Product Name
Sponsor
Development Status
AB-103
(synthetic peptide)
Atox Bio
Ness Ziona, Israel
Fast Track Drugs and Biologics
North Potomac, MD
treatment of necrotizing soft tissue

infections (NSTI)
(Fast Track)
Phase II
www.atoxbio.com
anthrax immune globulin (human)
Cangene
Winnipeg, Canada
treatment of toxemia associated with

inhalational anthrax
Phase III
www.cangene.com
Anthrivig
anthrax immune globulin
Emergent Biosolutions
Rockville, MD
treatment of inhalation anthrax

disease (Fast Track)
Phase III
Arestvyr
tecovirimat
SIGA
New York, NY
treatment of orthopoxvirus infections

(Fast Track)
Phase II
www.siga.com
AriKace
liposomal amikacin for inhalation
Insmed
treatment of bronchiectasis in
patients with Pseudomonas
aeruginosa or other susceptible
microbial pathogens
(see also genetic)
----------------------------------------treatment of infections caused by
non-tuberculous mycobacteria
(Fast Track)
Phase II completed
www.insmed.com
prevention of clinically significant

cytomegalovirus (CMV) viremia,
CMV disease and associated
complications in at-risk
hematopoietic cell transplant
populations
----------------------------------------prevention of clinically significant
cytomegalovirus (CMV) viremia, CMV
disease and associated complications
in solid transplant populations
Phase III
www.astellas.com
Infectious Diseases
ASP0113
(cytomegalovirus DNA vaccine)
(VCL-CB01)
Astellas Pharma US
Northbrook, IL
Rare Diseases 2013
----------------------------------------Phase II
www.insmed.com
----------------------------------------Phase II
www.astellas.com
39
Infectious Diseases
Product Name
Sponsor
Development Status
AVI-7288
Sarepta Therapeutics
Cambridge, MA
prophylaxis following documented or

suspected exposure to Marburg virus
(Fast Track)
Phase I
www.sareptatherapeutics.com
Cayston
aztreonam
Gilead Sciences
Foster City, CA
improvement of respiratory symptoms

in patients with bronchiectasis and
gram-negative bacteria in the airways
Phase III completed

www.gilead.com
Civacir
hepatitis C virus immune globulin
(human)
Boca Raton, FL
prophylaxis of hepatitis C infection in

liver transplant recipients
Phase III
delamanid
(OPC-67683)
Otsuka Pharmaceutical
Rockville, MD
treatment of pulmonary tuberculosis
Phase III
www.otsuka.com
Dificid
fidaxomicin
Optimer Pharmaceuticals
Jersey City, NJ
treatment of pediatric Clostridium

difficile infection
Phase II
www.optimerpharma.com
ETI-204
(recombinant chimeric mAb)
Elusys Therapeutics
Pine Brook, NJ
treatment of exposure to B. anthracis

spores (Fast Track)
Phase I
www.elusys.com
isavuconazole
Astellas Pharma US
Northbrook, IL
Basilea Pharmaceutica
Basel, Switzerland
treatment of invasive aspergillosis
Phase III
www.astellas.com
maribavir
ViroPharma
Exton, PA
treatment of clinically significant

cytomegalovirus viremia and disease
in at-risk patients (Fast Track)
Phase II
www.viropharma.com
MBX-400/cyclopropavir
(nucleoside DNA polymerase
inhibitor)
Microbiotix
Worcester, MA
treatment of active cytomegalovirus

infections
Phase I
www.microbiotix.com
miltefosine
Paladin Therapeutics
St-Laurant, Canada
treatment of leishmaniasis
www.paladin-labs.com
MK-8228
(letermovir)
Merck
prevention of human
cytomegalovirus viremia and disease
in at-risk populations (Fast Track)
Phase II
www.merck.com
Nabi-HB
hepatitis B immune globulin
(human)
Boca Raton, FL
prophylaxis against hepatitis B virus

reinfection liver transplant patients
40
Rare Diseases 2013
Infectious Diseases
Product Name
Sponsor
Development Status
nifurtimox

Wayne, NJ
treatment of Chagas disease

(American typanosomiasis) caused
by T. cruzi
Phase I
www.bayerpharma.com
Nuartez
artesunate injection
Gaithersburg, MD
US Army Medical Materiel
Development Activity
Ft. Detrick, MD
immediate treatment of malaria
Phase III completed

www.sigmatau.com
RiVax
ricin toxin pre-exposure vaccine
Soligenix
Princeton, NJ
prevention of ricin intoxication
Phase I
www.soligenix.com
SQ109
(ethylenediamine)
Sequella
Rockville, MD
treatment of tuberculosis
(Fast Track)
Phase II
www.sequella.com
sutezolid
Sequella
Rockville, MD
treatment of tuberculosis
Phase II
www.sequella.com
tafenoquine
(8-aminoquinoline)
GlaxoSmithKline
treatment of malaria
Phase II
www.gsk.com
TCN-202
(mAb)
Theraclone Sciences
Seattle, WA
prevention of congenital
cytomegalovirus (CMV) infection
following primary CMV infection in
pregnant women
Phase I
www.theraclone-sciences.com
Thravixa
human anthrax mAb
Emergent BioSolutions
Rockville, MD
for post-exposure prophylaxis and

treatment of inhalation anthrax
Phase I
Valtorim
anthrax anti-toxin mAb
PharmAthene
Annapolis, MD
treatment of anthrax infection

(Fast Track)
Phase I
www.pharmathene.com
vancomycin inhalation powder
Savara Pharmaceuticals
Austin, TX
treatment of persistent methicillinresistant S. aureus lung infection in

patients with cystic fibrosis
Phase II
www.savarapharma.com
Product Name
Sponsor
Development Status
ADX-N05
(neurotransmitter modulator)
Aerial BioPharma
Morrisville, NC
treatment of narcolepsy
Phase II
www.aerialbio.com
AmiKet
amitriptyline/ketamine
Immune Pharmaceuticals
Tarrytown, NY
treatment of postherpetic neuralgia
Phase II completed
www.immunepharmaceuticals.com
Rare Diseases 2013
41
Product Name
Sponsor
Development Status
arimoclomol
ALS Association
Richmond, VA
FDA Office of Orphan Products
Development
Silver Spring, MD
University of Miami
Miami, FL
treatment of amyotrophic lateral

sclerosis
Phase II/III
www.alsa.org
ATI355
(anti-Nogo-A mAb)
East Hanover, NJ
treatment of acute spinal cord injury
Phase I
www.novartis.com
autologous bone marrow-derived

mesenchymal stem cells
TCA Cellular Therapy

Covington, LA

sclerosis
Phase I
www.tcacellulartherapy.com
BA-210
BioAxone BioSciences
Cambridge, MA
treatment of acute spinal cord injury

(Fast Track)
Phase II
www.bioaxonebio.com
Captisol-enabled
topiramate injection
CURx Pharmaceuticals
San Diego, CA
Ligand Pharmaceuticals
La Jolla, CA
treatment of partial onset or primary

generalized tonic-clonic seizures for
hospitalized epilepsy patients who are
unable to take oral topiramate
Phase I
www.ligand.com
Circadin
melatonin controlled-release
Neurim Pharmaceuticals
Tel-Aviv, Israel
treatment of non-24-hour sleep-wake

disorder in blind individuals without
light perception
Phase III
www.neurim.com
civamide
Winston Laboratories
Vernon Hills, IL
treatment of postherpetic neuralgia
Phase III
www.winstonlabs.com
----------------------------------------Phase II
www.winstonlabs.com
----------------------------------------treatment of postherpetic neuralgia

of the trigeminal nerve
CPP-115
(GABA-AT inhibitor)
Catalyst Pharmaceutical Partners

Coral Gables, FL
treatment of infantile spasms
Phase I
www.catalystpharma.com
diazepam intranasal spray
Acorda Therapeutics
Ardsley, NY
management of patients with acute

repetitive seizures
Phase III
www.acorda.com
Duopa
levodopa/carbidopa intranuodenal
AbbVie
North Chicago, IL
treatment of late-stage Parkinsons

www.abbvie.com
Eladur
bupivacaine transdermal
DURECT
Cupertino, CA
relief of persistent pain associated

with postherpetic neuralgia
Phase II
www.durect.com
ganaxolone
Marinus Pharmaceuticals
New Haven, CT
treatment of infantile spasms
Phase II
www.marinuspharma.com
42
Rare Diseases 2013
Product Name
Sponsor
Development Status
H.P. Acthar Gel

repository corticotropin injection
subcutaneous
Quesctor Pharmaceuticals
Anaheim Hills, CA

sclerosis
Phase II
www.questcor.com
intravenous carbamazepine
Lundbeck
Deerfield, IL
treatment of epilepsy patients who

cannot take anything by mouth (NPO)
Phase III
www.lundbeck.com
ISIS-SMNRX
Biogen Idec
Weston, MA
Isis Pharmaceuticals
Carlsbad, CA
treatment of spinal muscular atrophy
Phase II
www.biogenidec.com
www.isispharm.com
midazolam intranasal
(USL-261)
Upsher-Smith Laboratories
Maple Grove, MN
rescue treatment of seizures in

patients who require control of
intermittent bouts of increased
seizure activity (e.g., acute repetitive
seizures, seizure clusters) (Fast Track)
Phase III
www.upsher-smith.com
NH001
(apomorphine subcutaneous)
NeuroHealing Pharmaceuticals
Waban, MA
for the treatment of patients in a

vegetative state orminimally
conscious state for up to 12 months
following a severe traumatic brain
injury (traumatic or spontaneous)
(Fast Track)
Phase II
www.neurohealing.com
Northera
droxidopa
Chelsea Therapeutics
Charlotte, NC
treatment of neurogenic symptomatic

orthostatic hypotension in patients
with primary autonomic failure
(Parkinsons disease, multiple system
atrophy, and pure autonomic failure),
dopamine-beta-hydroxylase
deficiency, and nondiabetic
autonomic neuropathy (Fast Track)
www.chelseatherapeutics.com
NP001
Neuraltus Pharmaceuticals
Palo Alto, CA
for slowing the progression of

amyotrophic lateral sclerosis
Phase II
www.neuraltus.com
NSI-566
(human spinal cord-derived neural
stem cells)
Neuralstem
Rockville, MD

sclerosis
Phase II
www.neuralstem.com
NurOwn
(GDNF-producing stem cell
therapy)
BrainStorm Cell Therapeutics

New York, NY

sclerosis
Phase II
www.brainstormcell.com
ozanezumab
(anti-nogo-A mAb)
GlaxoSmithKline

sclerosis
Phase II
www.gsk.com
Rare Diseases 2013
43
Product Name
Sponsor
Development Status
PF-06687859
(mRNA decapping enzyme
inhibitor)
Pfizer
New York, NY
treatment of spinal muscular atrophy

(Fast Track)
Phase I
www.pfizer.com
progesterone infusion
(BHR-100)
BHR Pharma
Herndon, VA
for early intervention in the treatment

of moderate to severe closed-head
traumatic brain injury (Fast Track)
Phase III
www.bhrpharma.com
RP103
(cysteamine)
Raptor Therapeutics
Novato, CA
Phase II/III
www.raptorpharma.com
RTL-1000
(recombinant T-cell receptor
ligand)
Artielle ImmunoTherapeutics
San Mateo, CA
treatment of multiple sclerosis

patients who are both HLA-DR2positive and autoreactive to myelin
oligodendrocyte glycoprotein residues
35-57
Phase I completed
www.artielle.com
SEN196
(SIRT-1 inhibitor)
Siena Biotech
Siena, Italy
Phase I
www.sienabiotech.com
tasimelteon
Vanda Pharmaceuticals
Washington, DC
treatment of non-24 hour sleep/wake

disorder in blind individuals without
light perception
www.vandapharma.com
tirasemtiv
Cytokinetics

sclerosis (ALS) (Fast Track)
Phase II
www.cytokinetics.com
Vanquix
diazepam auto-injector
Pfizer
New York, NY
management of selected,
refractory patients with epilepsy
on stable regimens of antiepileptic
drugs, who require intermittent
use of diazepam to control bouts of
increased seizure activity
Phase III
www.pfizer.com
Product Name
Sponsor
Development Status
Adempas
riociguat

Wayne, NJ
treatment of pulmonary arterial

hypertension
www.bayerpharma.com
AIR001
(sodium nitrite)
Aires Pharmaceuticals
San Diego, CA

hypertension
Phase II
www.airespharma.com
44
Rare Diseases 2013
Product Name
Sponsor
Development Status
ARD-3150
(liposomal ciprofloxacin)
Aradigm
Hayward, CA
management of bronchiectasis
Phase III
www.aradigm.com
aviptadil
(vasoactive intestinal peptide)
THERAMetrics
Stans, Switzerland
treatment of acute respiratory distress

syndrome
Phase I
www.therametrics.com
beraprost 314d
United Therapeutics
Silver Spring, MD

hypertension
Phase III
www.unither.com
BMS-986202
(LPA1 receptor antagonist)
Princeton, NJ
treatment of idiopathic pulmonary

fibrosis
Phase II
www.bms.com
Esbriet
pirfenidone
InterMune
Brisbane, CA

fibrosis (Fast Track)
Phase III
www.intermune.com
FG-3019
(CTGF mAb inhibitor)
FibroGen
San Francisco, CA

fibrosis
Phase II
www.fibrogen.com
GeNosyl
nitric oxide
GeNO
Waltham, MA
treatment of persistent pulmonary

hypertension in newborns
www.genollc.com
INOmax
nitric oxide inhalation
Ikaria
Hampton, NJ
to reduce the risk of chronic lung

disease in premature neonates
----------------------------------------treatment of pulmonary arterial
hypertension
Phase III
www.ikaria.com
----------------------------------------Phase I
www.ikaria.com
IW001
(purified bovine type V collage)
ImmuneWorks
Indianapolis, IN

fibrosis
Phase I
www.immuneworks.com
nintedanib
(triple kinase inhibitor)
Boehringer Ingelheim Pharmaceuticals

Ridgefield, CT
treatment of patients with idiopathic

pulmonary fibrosis
Phase III
Opsumit
macitentan

hypertension
www.actelion.com
PRM-151
(recombinant human pentraxin-2
protein)
Promedior
Lexington, MA

fibrosis
Phase II
www.promedior.com
SAR156597
(IL4/IL13 bi-specific antibody)
Sanofi US
Bridgewater, NJ

fibrosis
Phase II
www.sanofi.com
selexipag

hypertension
Phase III
www.actelion.com
Rare Diseases 2013
45
Product Name
Sponsor
Development Status
simtuzumab
(anti-LOXL2 mAb)
Gilead Sciences
Foster City, CA

fibrosis
(see also blood, cancer)
Phase II
www.gilead.com
STX-100
(anti-integrin alphaVbeta6 mAb)
Biogen Idec
Weston, MA

fibrosis
Phase II
www.biogenidec.com
Surfaxin
lucinactant
Discovery Laboratories
Warrington, PA
treatment of acute respiratory distress

syndrome in adults (Fast Track)
Phase II completed
www.discoverylabs.com
tralokinumab
(anti-interleukin-13 mAb)
AstraZeneca
Wilmington, DE
MedImmune
Gaithersburg, MD

fibrosis
Phase II
www.astrazeneca.com
Product Name
Sponsor
Development Status
Debrase
bromelain topical
MediWound
Yvane, Israel
debridement of acute, deep dermal

burns in hospitalized patients
Phase II completed
www.mediwound.com
StrataGraft
skin replacement therapy
Stratatech
Madison, WI
treatment of hospitalized patients

with complex skin defects resulting
from partial and full thickness skin
burns requiring excision and grafting
Phase I/II
www.stratatechcorp.com
Product Name
Sponsor
Development Status
anti-T-lymphocyte immune
globulin
Fresenius Biotech
Waltham, MA
prevention of graft versus host

disease (GVHD)
Phase III
www.fresenius-biotech.com
ASC-101
America Stem Cell

Floresville, TX
to improve homing to bone

(treatment of myeloablation) in
patients receiving hematopoietic stem
cell transplantation
Phase I/II
www.americastemcell.com
Skin
Transplantation
46
Rare Diseases 2013
Transplantation
Product Name
Sponsor
Development Status
BB3
(HGF mimetic)
Angion Biomedica
Uniondale, NY
to improve renal function and prevent

delayed graft function following renal
transplantation (Fast Track)
Phase II
www.angion.com
emricasan
Conatus Pharmaceuticals
San Diego, CA
treatment of patients undergoing

solid organ transplantation (hepatic
fibrosis)
Phase II
www.conatuspharma.com
HSV-TK cell therapy
MolMed
Milan, Italy
immunotherapy for acceleration

of T-cell reconstitution in patients
undergoing allogeneic hematopoietic
stem cell transplantation
Phase III
www.molmed.com
humanized IgG4 mAb

(OPN-305)
Opsona Therapeutics
Dublin, Ireland
prevention of ischemia/reperfusion
injury associated with solid organ
transplantation
Phase II
www.opsona.com
liposomal alpha
galactosylceramide
(RGI-2001)
REGiMMUNE
Santa Clara, CA
prevention of graft versus host

disease
Phase I/II
www.regimmune.com
Multistem
stem cell therapy
Athersys
Cleveland, OH
prophylaxis of graft versus host

disease
Phase I
www.athersys.com
NX001
NephRx
Kalamazoo, MI
treatment of delayed graft function in

renal transplant recipients
----------------------------------------prevention of delayed graft function
in renal transplant recipients
Phase I
www.nephrx.com
----------------------------------------Phase I
www.nephrx.com
Prochymal
remestemcel-L
Osiris Therapeutics
Columbia, MD
treatment of acute graft versus host

Phase III
www.osiris.com
QPI-1002
(siRNA oligonucleotide)
Quark Pharmaceuticals
Fremont, CA
prophylaxis of delayed graft function

in renal transplant patients
Phase II
www.quarkpharma.com
reparixin
(IL-8A/B receptor antagonist)
Dompe
Milan, Italy
prevention of graft loss in pancreatic

islet transplantation
Phase II
www.dompe.com
Rare Diseases 2013
47
Transplantation
Product Name
Sponsor
Development Status
TOL101
(anti T-cell receptor murine mAb)
Tolera Therapeutics
Kalamazoo, MI
prophylaxis of acute rejection of solid

organ transplantation
Phase I/II
www.tolera.com
TXA127
(angiotensin 1-7)
Tarix Pharmaceuticals
Cambridge, MA
to accelerate engraftment of
hematopoietic cells (treatment of
neutropenia, thrombocytopenia,
lymphoma, and anemia) in
hematopoietic stem cell transplants
----------------------------------------treatment of patients requiring stem
cell transplantation to accelerate
the mobilization of hematopoietic
stem cells (CD34+) from the bone
marrow to the peripheral blood when
combined with a granulocyte
colony-stimulating factor
Phase II
www.tarixpharma.com
----------------------------------------Phase I completed
www.tarixpharma.com
Other
Product Name
Sponsor
Development Status
Ampligen
rintatolimid
Hemispherx Biopharma
Philadelphia, PA
treatment of chronic fatigue

syndrome
Phase III completed

www.hemispherxbiopharma.net
BIO300
Humanetics
Minneapolis, MN
prevention of acute radiation

syndrome
Phase I
www.humaneticscorp.com
BMN-190
(rhTPP1)
San Rafael, CA
treatment of neuronal ceroid

lipofutscinosis type 2
Phase I/II
www.bmrn.com
BYM338
(bimagrumab)
East Hanover, NJ
treatment of inclusion body myositis

Phase II
www.novartis.com
CYT-107
(glycosylated recombinant
human interleukin-7)
Cytheris
Rockville, MD
treatment of progressive multifocal

leukoencephalopathy
Phase II
www.cytheris.com
Defitelo
defibrotide
Gentium
Villa Guardia, Italy
Gaithersburg, MD
for the treatment of hepatic

veno-occlusive disease (Fast Track)
Phase III
www.sigmatau.com
48
Rare Diseases 2013
Other
Product Name
Sponsor
Development Status
DigiBind
digoxin immune fab (ovine)
Glenveigh Medical
Chattanooga, TN
treatment of severe preeclampsia and

eclampsia (Fast Track)
Phase II
www.glenveigh.com
ELAD
immortalized human liver cells/
extracorporeal liver assist device
Vital Therapies
San Diego, CA
treatment of fulminant hepatic failure

(acute liver failure)
Phase III
www.vitaltherapies.com
entolimod
Cleveland BioLabs
Buffalo, NY
prevention of death following a

potentially lethal dose of total body
irradiation during or after a radiation
disaster
Phase I
www.cbiolabs.com
fresolimumab
(TGF-beta antagonist)
Sanofi US
Bridgewater, NJ
treatment of primary focal segmental

glomerulosclerosis
Phase II
www.sanofi.com
human heterologous liver cells
Cytonet
Durham, NC
treatment of urea cycle disorders
Phase II
www.cytonetllc.com
Ilaris
canakinumab
East Hanover, NJ
treatment of TNF receptor-associated

periodic syndrome (TRAPS)
Phase II
www.novartis.com
Kiacta
eprodisate
Auven Therapeutics
New York, NY
treatment of secondary amyloidosis
Phase III
www.auventx.com
Lucassin
terlipressin
Ikaria
Lebanon, NJ
treatment of hepatorenal syndrome

(Fast Track)
www.ikaria.com
metreleptin
Amylin Pharmaceuticals
San Diego, CA
treatment of metabolic disorders

secondary to lipodystrophy (Fast Track)
----------------------------------------treatment of leptin deficiency secondary to generalized lipodystrophy and
partial familial lipodystrophy
(Fast Track)
www.bms.com
www.bms.com
midostaurin
(PKC412)
East Hanover, NJ
treatment of mastocytosis
Phase II
www.novartis.com
MLN9708
(ixazomib citrate)
Cambridge, MA
treatment of systemic light chain (AL)

amyloidosis
Phase III
www.millennium.com
Natpara
recombinant human parathyroid
hormone (rhPTH)
NPS Pharmaceuticals
Bedminster, NJ
treatment of hypoparathyroidism
Phase III
www.npsp.com
Rare Diseases 2013
49
Other
Product Name
Sponsor
Development Status
Neo-Urinary Conduit
Tengion
Winston-Salem, NC
treatment of bladder dysfunction

requiring incontinent urinary
diversion
Phase I
www.tengion.com
NT-100
(rhGCSF)
Nora Therapeutics
Palo Alto, CA
prevention of implantation failure
Phase II
www.noratherapeutics.com
obeticholic acid
(OCA)
Intercept Pharmaceuticals
New York, NY
treatment of primary biliary cirrhosis
Phase III
www.interceptpharma.com
OCR-002
(ornithine phenylacetate)
Ocera Therapeutics
San Diego, CA
treatment of hyperammonemia and

resultant hepatic encephalopathy
(HE) in patients with acute liver
failure (Fast Track)
Phase II
www.ocerainc.com
Octaplas LG
human coagulation active plasma,
solvent/detergent treated
Octapharma USA
Hoboken, NJ
treatment of thrombotic
www.octapharma.com
OrbeShield
beclomethasone dipropionate
Soligenix
Princeton, NJ
prevention of death following a

potentially lethal dose of total body
irradiation during or after a radiation
disaster (Fast Track)
Phase I/II
www.soligenix.com
Oxabact
oxalobacter formigenes
OxThera
Stockholm, Sweden
treatment of primary hyperoxaluria
Phase II/III
www.oxthera.com
PRT-201
(recombinant human type I
pancreatic elastase)
Proteon Therapeutics
Waltham, MA
prevention of arteriovenous fistula

maturation and arteriovenous graft
failure in patients with endstage
renal disease who are receiving
hemodialysis or preparing for
hemodialysis (Fast Track)
Phase II
www.proteontherapeutics.com
Ravicti
glycerol
Hyperion Therapeutics
for intermittent or chronic treatment

of patients with cirrhosis and any
grade hepatic encephalopathy
Phase II
www.hyperiontx.com
recilisib
Newton, PA
treatment of acute radiation

syndrome
Phase I
www.onconova.com
Samsca
tolvaptan
Otsuka Pharmaceuticals
Rockville, MD
treatment of autosomal dominant

polycystic kidney disease
(Fast Track)
www.otsuka.com
SAR100842
(LPA-1/LPA-3 antagonist)
Sanofi US
Bridgewater, NJ
treatment of patients with systemic

sclerosis
Phase II
www.sanofi.com
50
Rare Diseases 2013
Other
Product Name
Sponsor
Development Status
Serelsa
fluoxetine rapid dissolve
(AT001)
Autism Therapeutics
New York, NY
treatment of autism
(Fast Track)
Phase III
www.autismtherapeutics.com
triheptanoin
Ultragenyx
Novato, CA
treatment of fatty acid disorders
Phase II
www.ultragenyx.com
uridine triacetate
(PN401)
Wellstat Therapeutics
Gaithersburg, MD
an antidote in the treatment of

5-fluorouracil poisoning
Phase III
www.wellstattherapeutics.com
XEN402
(sodium channel inhibitor)
Teva Pharmaceutical
North Wales, PA
Xenon Pharmaceuticals
Burnaby, Canada
treatment of erythromelalgia
Phase II
www.tevapharm.com
www.xenon-pharma.com
Xiaflex
collagenase clostridium
hystolyticum
Auxilium Pharmaceuticals
Chesterbrook, PA
treatment of Peyronies disease
www.auxilium.com
The content of this report has been obtained through public, government (FDAs Orphan Drug Product designation database) and
industry sources, and the Adis R&D Insight database based on the latest information. Report current as of September 23,
2013. The medicines in this report include medicines being developed by U.S. based companies conducting trials in the United
States and abroad, PhRMA-member companies conducting trials in the United States and abroad, and foreign companies conducting clinical trials in the United States. The information in this report may not be comprehensive. For more specific information about a particular product, contact the individual company directly or go to www.clinicaltrials.gov. The entire series of
Medicines in Development is available on PhRMAs website.
A publication of PhRMAs Communications & Public Affairs Department. (202) 835-3460
www.phrma.org | www.innovation.org | www.pparx.org
Provided as a Public Service by PhRMA. Founded in 1958 as the Pharmaceutical Manufacturers Association.
Copyright 2013 by the Pharmaceutical Research and Manufacturers of America. Permission to reprint is awarded if proper
credit is given.
Pharmaceutical Research and Manufacturers of America 950 F Street, NW, Washington, DC 20004
Rare Diseases 2013
51
Glossary
adenocarcinomaCancer of glandular
tissue, or tumor of which gland-derived
cells form gland-like structures.
adjuvantA substance or drug that aids
another substance in its action.
alpha 1-proteinase inhibitor deficiency
Although it is a rare condition, some
people are congenitally deficient in alpha
1-proteinase inhibitor (or alpha 1-trypsin, a glycoprotein), which predisposes
them to pulmonary emphysema early in
life, even in the absence of exposure to
substances (like cigarette smoke) that
interfere with lung-defense mechanisms.
amyotrophic lateral sclerosis (ALS)
Also known as Lou Gehrigs disease, the
most common of the motor neuron diseases, a group of rare disorders in which
the nerves that control muscular activity
degenerate within the brain and spinal
cord causing weakness and wasting of
the muscles.
anaplastic thyroid carcinomaAn
aggressive, invasive form of cancer of
the thyroid gland. It occurs most often
in people over age 60. The cause is
unknown. Anaplastic cancer accounts
for only about 1 percent of all thyroid
cancers and is a very rare disease.
application submittedAn application
for marketing has been submitted by the
company to the Food and Drug Administration (FDA).
aspergillosisInfection caused by aspergillus, a fungus sometimes found in old
buildings or decaying plant matter.
B-cellA class of white blood cells important to the bodys immune system.
Becker muscular dystrophy (BMD)
One of nine types of muscular dystrophy, a group of genetic, degenerative
diseases primarily affecting voluntary
muscles. Its caused by an insufficient
production of dystrophin, a protein that
helps keep muscle cells intact. Onset can
occur during adolescence or adulthood.
Symptoms include generalized weakness and wasting, which first affects the
52
muscles of the hips, pelvic area, thighs

and shoulders. BMD is similar to Duchenne MD but often much less severe.
The disease progresses slowly and with
variability but can affect all voluntary
muscles. BMD primarily affects boys and
men, who inherit the disease through
their mothers. Most with BMD survive
well into mid- to late adulthood.
Breakthrough therapyA designation
assigned by the U.S. Food and Drug
Administration that is intended to
expedite the development and review
of drugs for serious or life-threatening
conditions. The criteria for breakthrough
therapy designation require preliminary
clinical evidence that demonstrates the
drug may have substantial improvement
on at least one clinically significant endpoint over available therapy. A breakthrough therapy designation conveys all
of the Fast Track designation features, as
well as more intensive FDA guidance on
an efficient drug development program.
carcinomaCancer. Squamous cell
carcinoma is one of the three most common types of skin cancer, arising from
the flattened, scale-like cells in the skin
and resulting primarily from long-term
exposure to the sun.
chronic fatigue syndromeThe symptoms of this illness include debilitating
fatigue, interference with the ability to
concentrate, and, in some cases, a lowgrade fever and swelling of the lymph
nodes. Many possible causes have been
implicated, but the true cause remains
unknown.
Clostridium difficileA bacterium that
produces an irritating toxin that causes a
form of colitis characterized by profuse,
watery diarrhea with cramps and lowgrade fever.
Crohns diseaseA subacute chronic
gastrointestinal disorder, involving the
small intestine, characterized by patchy
deep ulcers that may cause fistulas and a
narrowing and thickening of the bowel.
Cushing disease
cutaneousPertaining to the skin.

cystic fibrosisA genetic disorder of the
exocrine glands (such as sweat glands or
kidneys) that causes abnormal mucous
secretions that obstruct glands and ducts
in various organs.
cytomegalovirus (CMV)A DNA virus
that can cause infection without symptoms or with mild flu-like symptoms.
diabetesA chronic disease in which the
body does not produce or properly use
insulin, a hormone that is needed to convert sugar, starches and other food into
energy needed for daily life. Symptoms
may include excessive thirst, hunger,
urination and weight loss. The cause
of diabetes continues to be a mystery,
although both genetics and environmental factors such as obesity and lack
of exercise appear to play roles. Type 1
diabetes, the more severe form, results
from the bodys failure to produce insulin, which unlocks the cells of the body,
allowing glucose to enter and fuel them.
It is estimated that 5 percent to 10
percent of Americans who are diagnosed
with diabetes have type 1, which requires
insulin treatment.
Duchenne muscular dystrophyAn
inherited disorder that involves rapidly
worsening muscle weakness. Other
muscular dystrophies get worse much
more slowly. Duchennes is caused by a
defective gene. Because of the way the
disease is inherited, males are more likely
to develop symptoms than are women.
epidermolysis bullosaA rare, inherited
condition in which blisters appear on
the skin after minor damage. It mainly
affects young children and has a wide
range of severity.
Fabry diseaseA genetic metabolic
disorder that causes build-up of certain
lipids. It becomes clinically apparent in
childhood and adolescence with fever, pain and small vascular tumors. It
progresses to central nervous system
disturbances and renal and cardiac failure
in mid-life.
Rare Diseases 2013
Glossary
Fast TrackA process designed to

facilitate the development and expedite
the review of drugs to treat serious
diseases and fill an unmet medical need.
The status is assigned by the U.S. Food
and Drug Administration. The purpose
is to get important new drugs to the
patient earlier. Fast Track addresses a
broad range of serious diseases. Generally, determining factors include whether
the drug will have an impact on such
factors as survival, day-to-day functioning, or the likelihood that the disease, if
left untreated, will progress from a less
severe condition to a more serious one.
Filling an unmet medical need is defined
as providing a therapy where none exists
or providing a therapy which may be
potentially superior to existing therapy.
Once a drug receives Fast Track designation, early and frequent communication
between the FDA and a drug company is
encouraged throughout the entire drug
development and review process. The
frequency of communication assures that
questions and issues are resolved quickly,
often leading to earlier drug approval
and access by patients.
fragile X syndromeOne of the most
common causes of inherited mental
retardation and neuropsychiatric disease
in human beings, affecting as many as 1
in 2,000 males and 1 in 4,000 females.
The syndrome is also known as FRAXA
(the fragile X chromosome itself) and as
the Martin-Bell syndrome. However, the
preferred name is fragile X syndrome.
The characteristic features of the fragile
X syndrome in boys include prominent or
long ears, a long face, delayed speech,
large testes, hyperactivity, tactile defensiveness, gross motor delays, and autistic-like behaviors. Much less is known
about girls with fragile X syndrome.
Only about half of all females who carry
the genetic mutation have symptoms
themselves. Of those, half are of normal
intelligence, and only one-fourth have
an IQ under seventy. Few fragile X girls
have autistic symptoms, although they
tend to be shy and quiet.
Friedreichs ataxiaAn inherited

disease that causes progressive damage to the nervous system resulting in
symptoms ranging from gait disturbance
and speech problems to heart disease.
Ataxia, which refers to coordination
problems such as clumsy or awkward
movements and unsteadiness, occurs in
many different diseases and conditions.
The ataxia of Friedreichs ataxia results
from the degeneration of nerve tissue in
the spinal cord and of nerves that control muscle movement in the arms and
legs. The spinal cord becomes thinner
and nerve cells lose some of their myelin
sheaththe insular covering on all nerve
cells that helps conduct nerve impulses.
The condition, although rare, is the
most prevalent inherited ataxia, affecting
about 1 in every 50,000 people in the
United States.
graft versus host diseaseIn bone

marrow transplantation, normal bone
marrow is used to replace malignant
or defective marrow. In an allogeneic
transplantation, healthy marrow is taken
from a donor; in an autologous transplantation, the patients own healthy
marrow is used. In graft vs. host disease,
a complication of such transplants, immune system cells attack the transplant
recipients tissues.
FXIII deficiency (congenital)A rare

disease that affects 1 out of every 3-5
million people in the United States, or
approximately 150 people. The condition is characterized by blood that clots
normally, but the clots are unstable, so
bleeding recurs. FXIII deficiency can
cause umbilical cord bleeding in some
newborns, soft tissue bruising, mucosal
bleeding and potentially fatal intracranial
hemorrhage (ICH). Studies have shown
that up to 60 percent of people with
FXIII deficiency experience at least one
ICH during their lifetime.
hepatitisInflammation of the liver

with accompanying liver cell damage
or death, caused most often by viral
infection (e.g., types B and C), but also
by certain drugs, chemicals or poisons.
Hepatitis may be either acute (of limited
duration) or chronic (continuing).
Gaucher diseaseAn inherited disease

caused by a lack or deficiency of an enzyme (glucocerebrosidase). Primarily affects the liver, spleen and bone marrow.
glioblastoma multiformeThe most
common and most malignant of the astrocytomas. The tumor grows so fast that
it increases pressure in the brain, producing headaches, slowed thinking, and if
severe enough, sleepiness and coma.
gliomaA type of brain tumor arising
from the supporting glial cells within
the brain. Gliomas make up about 60
percent of all primary brain tumors and
are frequently malignant.
Rare Diseases 2013
hematopoietic supportHelping the

body to form blood or blood cells.
hemophilia A and BHemophilia A,
the classic hemophilia, is a genetic
bleeding disorder due to deficiency of
the coagulation factor VIII. Hemophilia
B, or Christmas disease, is caused by
deficiency of coagulation factor IX.
hepaticRelated to the liver.
hepatocellularPertaining to the cells in

the liver.
hepatocellular cancer/carcinomaA
cancer that begins in the liver cells.
hereditary angioedemaA rare but
serious problem with the immune system
that is passed down through families. It
is caused by low levels or improper functioning of a protein called C1 inhibitor,
which affects the blood vessels. People
with hereditary angioedema can develop
rapid swelling of the hands, feet, limbs,
face, intestinal tract, or airway (larynx or
trachea).
HPV (human papillomavirus)Viral
agent of warts, believed to be contagious and usually harm-less, but it can
lead to cervical cancer.
Huntingtons diseaseHuntingtons
chorea is an uncommon, inherited disease in which degeneration of the basal
53
Glossary
ganglia (structures deep in the brain)

results in chorea (rapid, jerky, involuntary
movements) and dementia (progressive
mental impairment). Symptoms do not
usually appear until the age of 35 to 50.
hypercholesterolemia (homozygous
familial)An inherited metabolic disorder resulting in an abnormal amount
of cholesterol in the blood. It can lead
to accelerated atherosclerosis and early
heart attack. Dietary treatment seldom
helps in these cases.
hypophosphatasiaA rare, inherited
disease that results in decreased activity of the enzyme alkaline phosphatase,
which assists in the metabolism of phosphate that is present in many tissues, including bones and teeth. The illness may
occur during infancy or as an adult. The
infantile form of hypophosphatasia is
fatal in 50 percent of cases. Symptoms
of hypophosphatasia in infants include
poor feeding, failure to gain weight,
failure to thrive, delayed development,
loss of teeth, and bone pain. Adults
who develop hypophosphatasia have
a normal life expectancy. Symptoms in
adults include premature loss of teeth,
fractures, and bone pain.
idiopathic thrombocytopenia purpura
A condition in which there is destruction of blood platelets by the immune
system. The reduced number of platelets
may result in abnormal bleeding into the
skin (purpura) and other parts of the
body.
inherited mitochondrial diseasesA
group of systemic diseases caused by
inherited or acquired damage to the mitochondria, which are small, energy-producing structures found in every cell in
the body that serve as the cells power
plants. When the mitochondria are not
working properly, there is an energy
shortage within those areas of the body
that consume large amounts of energy
such as the muscles, brain, and heart.
The result is often muscle weakness, fa-
54
tigue, and problems with the heart, eyes,

and various other systems.
Juvenile rheumatoid arthritisRefers to
arthritis or an arthritis-related condition
(rheumatic disease) that occurs by age
15 or younger.
Leber congenital amaurosis (LCA)An
inherited retinal degenerative disease
characterized by severe loss of vision
at birth. A variety of other eye-related
abnormalities including roving eye movements, deep-set eyes, and sensitivity to
bright light also occur with this disease.
Some patients with LCA also experience
central nervous system abnormalities.
Lesch-Nyhan syndrome (LNS)A rare,
inherited disorder caused by an enzyme
(HPRT) deficiency. LNS is present at
birth in baby boys. The lack of HPRT
causes a build-up of uric acid in all body
fluids, leading to symptoms such as
severe gout, poor muscle control, and
moderate retardation, which appear in
the first year of life. A striking feature of
LNS is self-mutilating behaviorscharacterized by lip and finger bitingthat
begin in the second year of life. Abnormally high uric acid levels can cause
sodium urate crystals to form in the
joints, kidneys, central nervous system,
and other tissues of the body, leading to
gout-like swelling in the joints and severe
kidney problems. Neurological symptoms
include facial grimacing, involuntary
writhing, and repetitive movements of
the arms and legs similar to those seen
in Huntingtons disease.
leukemiaA form of cancer involving
abnormally growing white blood cells,
which dominate the bone marrow and
prevent it from making enough normal
blood cells. This leaves the patient highly
susceptible to serious infections, anemia
and bleeding episodes. The cells increase
in the blood, interfering with the function of other organs.
lymphomaCancers in which the cells
of lymphoid tissue, found mainly in
the lymph nodes and spleen, multiply

unchecked. Lymphomas fall into two
categories: One is called Hodgkins disease, characterized by a particular kind
of abnormal cell. All others are called
non-Hodgkins lymphomas, which vary in
their malignancy according to the nature
and activity of the abnormal cells. B and
T-cell lymphomas are caused by proliferation of the two principal types of white
blood cells, called B- and T-lymphocytes.
Mycosis fungoides is a type of lymphoma that primarily affects the skin of
the buttocks, back or shoulders but can
also occur in other sites. The cause is
unknown.
melanomaA cancer made up of pigmented skin cells.
metastaticSecondary cancers that
have spread from the primary or original
cancer site.
mucositisThe swelling, irritation, and
ulceration of the mucosal cells that line
the digestive tract. Mucositis can occur
anywhere along the digestive tract from
the mouth to the anus. It can be a very
troublesome and painful side effect of
chemotherapy.
multiple myelomaA malignant condition characterized by the uncontrolled
proliferation and disordered function of
plasma cells (a type of white blood cell)
in the bone marrow. It occurs in middle
to old age and leaves patients vulnerable
to increased infections and anemia.
multiple sclerosis (MS)Progressive
disease of the central nervous system in
which scattered patches of the covering
of nerve fibers (myelin) in the brain and
spinal cord are destroyed. Symptoms
range from numbness and tingling to
paralysis and incontinence.
neuroblastomaA tumor of the adrenal
glands or sympathetic nervous system
(the part of the nervous system responsible for certain automatic body functions, such as the control of heart rate).
Neuroblastomas are the most common
Rare Diseases 2013
Glossary
extra-cranial (outside the skull) solid

tumors of childhood.
neuropathic painCaused by disease,
inflammation, or damage to the peripheral nerves, which connect the central
nervous system (brain and spinal cord) to
the sense organs, muscles, glands, and
internal organs.
neuropathyDisease, inflammation, or
damage to the peripheral nerves, which
connect the central nervous system to
the sense organs, muscles, glands, and
internal organs.
Parkinsons diseaseChronic neurologic
disease of unknown cause, characterized
by tremors, rigidity and an abnormal
gait. The most common variety is idiopathic Parkinsons disease.
Phase 0First-in-human trials conducted in accordance with FDAs 2006 guidance on exploratory Investigational New
Drug (IND) studies designed to speed up
development of promising drugs by establishing very early whether the tested
compound behaves in human subjects as
was anticipated from preclinical studies.
Phase ISafety testing and pharmacological profiling in humans.
Phase IIEffectiveness and safety testing in humans.
Phase IIIExtensive clinical trials to
demonstrate safety and efficacy in
humans.
Pompe diseaseA rare (estimated at
1 in every 40,000 births), inherited
and often fatal disorder that disables
the heart and muscles. It is caused
by mutations in a gene that makes an
enzyme called alpha-glucosidase (GAA).
Normally, the body uses GAA to break
down glycogen, a stored form of sugar
used for energy. But in Pompe disease,
mutations in the GAA gene reduce
or completely eliminate this essential

enzyme. Excessive amounts of glycogen
accumulated everywhere in the body,
but the cells of the heart and skeletal
muscles are the most seriously affected.
The symptoms of Pompe disease can
vary widely in terms of age of onset and
severity depending on the degree of
enzyme deficiency.
abnormal oxygen-carrying pigment

called hemoglobin S, resulting in chronic,
severe anemia and the characteristic
sickle shape of the red cell. Caused by
mutation of the gene that codes for
hemoglobin.
postherpetic neuralgiaA burning pain

that may recur at the site of an attack of
shingles months or even years after the
illness.
systemicAffecting the whole body.
prophylaxisTreatment intended to
preserve health and prevent the spread
of disease.
pulmonaryPertaining to the lungs.
pulmonary arterial hypertensionHigh
blood pressure in the arteries supplying
the lungs due to increased resistance to
blood flow through the lungs.
renalRelates to kidneys.
respiratory distress syndrome (RDS)
Lung disorder of premature infants
characterized by respiratory distress and
cyanosis (lack of oxygen in blood). RDS
is caused by a deficiency of surfactant,
a substance that coats the inner lining
of the lungs and prevents them from collapsing during exhalation.
retinitis pigmentosaDegeneration in
both eyes of the rods and cones of the
retinathe light-sensitive membrane that
lines the inside of the back of the eye
on which images are cast by the cornea
and lens. Usually has a genetic basis.
The first symptom is usually night blindness, progressing to a ring-shaped area
of blindness that gradually extends to
lessen the field of vision.
sickle cell anemia/diseaseInherited blood disorder in which red cells
are abnormal in shape and contain an
Rare Diseases 2013
spinal cord injuryDamage to the spinal

cord which can cause loss of sensation,
muscle weakness or paralysis.
thalassemiaNot just one disease
but rather a complex series of genetic
(inherited) disorders all of which involve
underproduction of hemoglobin, the
indispensable molecule in red blood cells
that carries oxygen.
Tourette syndrome (TS)A neurological disorder characterized by repetitive,
involuntary movements and vocalizations
called tics. The early symptoms of TS are
typically noticed first in childhood, with
the average onset between the ages of
3 and 9. TS occurs in people from all
ethnic groups; males are affected about
three to four times more often than
females. It is estimated that 200,000
Americans have the most severe form
of TS, and as many as 1 in 100 exhibit
milder and less complex symptoms such
as chronic motor or vocal tics. Although
TS can be a chronic condition with
symptoms lasting a lifetime, most people
with the condition experience their worst
tic symptoms in their early teens, with
improvement occurring in the late teens
and continuing into adulthood.
ulcerative colitisA chronic inflammation and ulceration of the lining of the
colon and rectum. It causes bloody diarrhea and mainly involves the left colon.
uveitisInflammation of the uvea, the
middle layer of the eye.
55
The Drug Discovery, Development and Approval Process
Developing a new medicine takes an average of 10-15 years;

For every 5,000-10,000 compounds in the pipeline, only 1 is approved.
PRECLINICAL
5,000 10,000
CLINICAL TRIALS
FDA REVIEW LG-SCALE MFG
250
ONE FDAAPPROVED
DRUG
3 6 YEARS
PHASE
1
PHASE
3
PHASE
2
NUMBER OF VOLUNTEERS
20 80
100 300
1,000 3,000
6 7 Y EARS
NDA SUBMIT T ED
COMPOUNDS
IND SUBMIT T ED
P R E - DI S COVERY
DRUG DISCOVERY
LON G , RISKY ROAD
0. 5 2
Y EARS
PHASE 4: POST-M AR K ET I N G SU RVEI L L A N C E
Drug Discovery and Development: A
The Drug Development and Approval Process

The U.S. system of new drug approvals is
perhaps the most rigorous in the world.
It takes 10-15 years, on average, for an experimental drug to travel from lab to U.S. patients,
according to the Tufts Center for the Study of
Drug Development. Only five in 5,000 compounds that enter preclinical testing make it to
human testing. And only one of those five is
approved for sale.
On average, it costs a company $1.2 billion,
including the cost of failures, to get one new
medicine from the laboratory to U.S. patients,
according to a recent study by the Tufts Center
for the Study of Drug Development.
Once a new compound has been identified in
the laboratory, medicines are usually developed
as follows:
Preclinical Testing. A pharmaceutical company
conducts laboratory and animal studies to show
biological activity of the compound against the
targeted disease, and the compound is evaluated for safety.
Investigational New Drug Application (IND).
After completing preclinical testing, a company files an IND with the U.S. Food and Drug
Administration (FDA) to begin to test the drug
in people. The IND shows results of previous

experiments; how, where and by whom the new
studies will be conducted; the chemical structure
of the compound; how it is thought to work in
the body; any toxic effects found in the animal
studies; and how the compound is manufactured. All clinical trials must be reviewed and approved by the Institutional Review Board (IRB)
where the trials will be conducted. Progress
reports on clinical trials must be submitted at
least annually to FDA and the IRB.
Clinical Trials, Phase IResearchers test the
drug in a small group of people, usually between
20 and 80 healthy adult volunteers, to evaluate
its initial safety and tolerability profile, determine a safe dosage range, and identify potential
side effects.
Clinical Trials, Phase IIThe drug is given
to volunteer patients, usually between 100 and
300, to see if it is effective, identify an optimal
dose, and to further evaluate its short-term
safety.
Clinical Trials, Phase IIIThe drug is given to a
larger, more diverse patient population, often
involving between 1,000 and 3,000 patients
(but sometime many more thousands), to gener-
ate statistically significant evidence to confirm

its safety and effectiveness. They are the longest studies, and usually take place in multiple
sites around the world.
New Drug Application (NDA)/Biologic License
Application (BLA). Following the completion
of all three phases of clinical trials, a company
analyzes all of the data and files an NDA or BLA
with FDA if the data successfully demonstrate
both safety and effectiveness. The applications
contain all of the scientific information that the
company has gathered. Applications typically
run 100,000 pages or more.
Approval. Once FDA approves an NDA or BLA,
the new medicine becomes available for physicians to prescribe. A company must continue
to submit periodic reports to FDA, including
any cases of adverse reactions and appropriate
quality-control records. For some medicines,
FDA requires additional trials (Phase IV) to
evaluate long-term effects.
Discovering and developing safe and effective
new medicines is a long, difficult, and expensive
process. PhRMA member companies invested an
estimated $48.5 billion in research and development in 2012.

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2013 REPORT

A Report on Orphan Drugs in the Pipeline

More Than 450 Medicines in Development for

Simply receiving a diagnosis of a rare

This is, however, a time of great

Rare diseases, when taken together, are

*Some medicines are listed in more than one category.

In 2012 alone, 13 orphan drugs were

A major area of this research targets

Innovative Orphan Drugs in the

function and, as dystrophin expression increases, there have

Potential New Treatment for a Genetic Disease in Infants

Medicines in Development By Disease and Phase

Rare Diseases 2013

RARE DISEASES BIG IMPACT

Source: National Institutes of Health

Orphan Drug Act of 1983

ALS: Fighting a Devastating DiseaseAmyotrophic lateral

RARE DISEASES BIG IMPACT

Source: National Institutes of Health

Rare Diseases 2013

Orphan Drug Approvals for

RARE DISEASES BIG IMPACT

Zelboraf (vemurafenib), a personalized medicine, was

protein is involved in regulating cell growth but a mutated

Seeking New Treatments for Children with a Rare Disease

Rare Diseases 2013

In the last five years, one-third of all new

Adcetris (brentuximab vedotin), the first in a new class of

SINCE 1983, NEARLY

RARE DISEASES BIG IMPACT

cally, Ilaris was approved to treat two types of CAPS: familial

RESEARCH PROGRESS HOPE

Source: Office of Orphan Products Development,

Rare Diseases 2013

RARE DISEASES BIG IMPACT

GOOD START, but

Source: Food and Drug Administration,

Challenges in Clinical Trials for

RARE DISEASES BIG IMPACT

Source: PhRMA, 2013 Rare Diseases Report

Rare Diseases 2013

Prescription Drug User Fee Act

PDUFA V Advances Regulatory

Rare Disease Facts and Statistics

Rare Diseases 2013

In the United States, a condition is considered rare if

Orphan Drugs in Development

Official FDA Designation*

treatment of systemic sclerosis to be

treatment of Behcets disease

treatment of neuropathic pain in

treatment of diffuse systemic sclerosis

treatment of type I diabetes with

for use in type 1 diabetic mellitus

treatment of Behcets disease

treatment of chronic inflammatory

treatment of type 1 diabetes patients

Latona Life Sciences

In the United States, a condition is considered rare if