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2013 MEDICINES IN DEVELOPMENT REPORT Rare Diseases A Report on Orphan Drugs in the Pipeline PRESENTED BY AMERICA’s biopharmACEUTICAL RESEARCH COMPANIES More Than 450 Medicines in Development for Rare Diseases Rare diseases, when taken together, are A major area of this research targets Orphan Drugs in Development* not that rare at all. In fact, according to rare cancers, accounting for more than Application the National Institutes of Health (NIH), one-third of all rare disease medicines in Submitted 30 million Americans have one of the development. Other top research areas Phase III nearly 7,000 diseases that are officially include genetic disorders, neurologi- Phase II deemed “rare” because alone they each cal conditions, infectious diseases and Phase I affect fewer than 200,000 people in autoimmune disorders. the United States. Sometimes, only Despite some recent victories, research a few hundred patients are known to 105 into treatments for rare diseases is a have a particular rare disease. daunting quest. This ongoing innovation Simply receiving a diagnosis of a rare and the hundreds of new medicines in disease often becomes a frustrating development now offer hope that physi- 85 quest, since many doctors may have nev- cians will have new treatment options er before heard of or seen the disease. for patients confronting a rare disease. This is, however, a time of great progress and hope. Biopharmaceutical 65 Contents research is entering an exciting new era Innovative Orphan Drugs with a growing understanding of the in the Pipeline ......................................... 2 human genome. Scientific advances have given researchers new tools to Orphan Drug Approvals ...........................4 explore rare diseases, which are often Challenges in Clinical Trials ......................6 more complex than common diseases. Prescription Drug User Fee Act 32 (PDUFA) ................................................. 7 28 In 2012 alone, 13 orphan drugs were approved for rare diseases, including Rare Disease Facts and Statistics .............. 7 20 therapies for Cushing disease, cystic Orphan Drugs in Development .................8 fibrosis and Gaucher disease. America’s Glossary ............................................... 52 biopharmaceutical research companies Drug Development/ are continuing that progress with 452 Approval Process ..................................56 medicines and vaccines in development s s y er der der for rare diseases. The medicines listed Blood ator Canc , Genetic ectious ological er Diseases in this report are either in clinical trials Inf Diseases Disor Disor Respir Neur Canc or under review by the Food and Drug *Some medicines are listed in more than one category. Administration (FDA). Key Issues Innovative Orphan Drugs in the function and, as dystrophin expression increases, there have been demonstrated improvements in patients’ ability to walk. Pipeline for Rare Diseases Potential New Treatment for a Genetic Disease in Infants The 452 medicines and vaccines in development for rare dis- —Hypophosphatasia is a rare inherited bone disease that eases employ exciting new scientific and technical knowledge. results from a genetic mutation which hinders the forma- Many of the medicines, which offer hope for those suffering tion of bones and teeth and can result in substantial skeletal from one of the nearly 7,000 rare diseases, represent innova- abnormalities. Severely affected infants often have persistent tive new ways to target disease, including: bone disease or die from respiratory insufficiency due to Targeted RNAi Therapy Approach for Duchenne Muscular progressive chest deformity from poorly developed bones. Dystrophy—In clinical trials, RNAi therapies have shown po- Currently, there are no approved medicines for this disease. tential in treating neuromuscular disorders such as Duchenne One therapy in development delivers the enzyme necessary muscular dystrophy (DMD), which affects about 1 in every for proper bone growth that patients with hypophosphatasia 3,500 to 6,000 male births each year in the United States. are missing. In DMD, DNA deletions cause mutations in important genes Treatments for Patients with Debilitating Lung Disease— that encode for dystrophin, a structural protein found in Idiopathic pulmonary fibrosis (IPF) is a debilitating and almost normal muscle. The loss of this protein causes muscle fibers uniformly fatal disease in which patients experience progres- to disintegrate faster than they can be regenerated. One sive difficulty breathing due to scarring of the lungs. There medicine in development targets restoration of dystrophin 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 Application Submitted Blood Disorders 7 Phase III Cancer 105 Phase II Cancer, Blood 65 Phase I Cancer-Related 10 Cancer, Skin 15 Cardiovascular Diseases 4 Digestive Disorders 14 Eye Disorders 16 Genetic Disorders 85 Growth Disorders 7 Infectious Diseases 28 Neurological Disorders 32 Respiratory Disorders 20 Skin Conditions 2 Transplantation 14 Other 35 2 Medicines in Development Rare Diseases 2013 Key Issues ALS: Fighting a Devastating Disease—Amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, is a progressive RARE DISEASES BIG IMPACT 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 mod- estly 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 patient’s own bone marrow stem-cells to create healthy neuron-like cells to replace diseased neurons. Other trials are studying 00 ways to prompt the immune system to protect neurons af- 7,0 fected by ALS. RARE DISE DE Two Targets to Fight Leukemia—A potential first-in-class ASES WORLDWI medicine for acute lymphoblastic leukemia (ALL) is a bispe- cific T-cell engager antibody designed to focus the body’s cell destroying T-cells against cells expressing CD19, a Source: National Institutes of Health 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 the average patient with IPF dies within three years of diag- cancer cells. nosis. A medicine in development targets connective tissue growth factor, which is elevated in the lungs of IPF patients. Combination Vaccine Treatment for Pancreatic Cancer—A Researchers recently announced promising results from a potential treatment for pancreatic cancer is a combination of Phase II trial in which 60 percent of IPF patients were able two therapeutic vaccines. The treatment combines a Listeria- to stabilize their disease or experience improvement in lung based vaccine that has been engineered to express the function. ORPHAN DRUG ACT OF 1983— RARE DISEASES BIG IMPACT 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. BY DEFINITION, A RARE DISEASE AFFECTS Over the last 30 years, more than 400 medicines representing 447 separate indications have been approved to treat rare diseases, compared to <200,000 fewer than 10 in the 1970s. As of September 15, 2013, the FDA has granted the orphan drug patients in the United States designation to 2,899 potential therapies. Source: National Institutes of Health Medicines in Development Rare Diseases 2013 3 Key Issues tumor-associated antigen mesothelin and allogeneic pancre- atic cancer cells that are genetically-modified to secrete the immune-stimulant, granulocyte-macrophage colony stimu- RARE DISEASES BIG IMPACT lating 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 anti- tumor responses. IN TOTAL, RARE DISEASE IMPACT Orphan Drug Approvals for 30 MILLION Rare Diseases Since passage of the Orphan Drug Act in 1983, more than 400 medicines for rare diseases have been brought to mar- ket. Below are some key approvals for rare diseases in recent years that represent new technologies or a more defined 1 IN 10 AMERICANS patient population target. Source: National Institutes of Health Zelboraf® (vemurafenib), a personalized medicine, was approved for the treatment of unresectable or metastatic melanoma that expresses a gene mutation called BRAF protein is involved in regulating cell growth but a mutated V600E. It was approved with a first-of-its-kind companion form is found in about half of the late-stage melanoma diagnostic (4800 BRAF V600 Mutation Test) to help de- cases. Zelboraf is able to block the function of the V600E- termine if a patient has the gene mutation. A normal BRAF mutated 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

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