More Than 450 Innovative Medicines in Development for Rare Diseases

Collectively, rare diseases affect one in ten Americans

WASHINGTON, D.C. (October 7, 2013) – America’s biopharmaceutical research companies are developing 452 new medicines for rare diseases, including genetic disorders, neurological conditions, infectious diseases and autoimmune disorders, according to a new report released today by the Pharmaceutical Research and Manufacturers of America (PhRMA).

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. According to the Food and Drug Administration (FDA), in the last five years, one third of all new drug approvals were for rare diseases.

Although a rare disease is defined as one that affects fewer than 200,000 people in the U.S., there are approximately 7,000 rare diseases and collectively they affect nearly 30 million people, or one in 10 Americans.

“Biopharmaceutical scientists are better equipped than ever before to bring new treatments – and hope – to patients battling one of the nearly 7,000 rare diseases. In order to capitalize on this scientific promise, we need to ensure that we have a policy and regulatory environment that helps foster this vital work,” said PhRMA President and CEO John J. Castellani.

The 452 medicines and vaccines in development for rare diseases – all in human clinical trials or under review by the FDA – include 105 for cancer, 85 for genetic disorders, 65 for blood cancers and 32 for neurological disorders. Examples include:

  • A medicine for idiopathic pulmonary fibrosis (IPF) that targets the elevated connective tissue growth factor in the lungs.
  • A potential treatment for ALS (Lou Gehrig’s disease) that uses the patient’s bone marrow stem cells to create healthy neuron-like cells to replace diseased neurons.  
  • A potential first-in-class medicine for acute lymphoblastic leukemia (ALL) designed to focus the body’s cell destroying T-cells against two different targets simultaneously, linking the T-cells to cancer cells.
  • A genetically-modified vaccine designed for the treatment of pancreatic cancer.

Rare diseases provide opportunities to study human physiology and biomedical science from unique perspectives, leading to insight into more common disorders. Advances in science and technology, such as personalized medicine, are creating new opportunities to improve and expand both research and development into rare diseases.

The development of medicines for rare diseases also poses unique challenges, such as recruitment of volunteers for clinical trials since the patient population with a specific rare disease is typically very small, geographically dispersed and often children.

For more information on specific rare diseases, recent medical progress, the scientific challenges and opportunities, and related policies and regulation, please see our report.


About PhRMA

The Pharmaceutical Research and Manufacturers of America (PhRMA) represents the country’s leading innovative biopharmaceutical research and biotechnology companies, which are devoted to discovering and developing medicines that enable patients to live longer, healthier, and more productive lives. Since 2000, PhRMA member companies have invested over $500 billion in the search for new treatments and cures, including an estimated $48.5 billion in 2012 alone.

Find PhRMA Online:

For information on how innovative medicines save lives, visit: http://www.innovation.org

For information on the Partnership for Prescription Assistance, visit: http://www.pparx.org

For information on ensuring the flow of medicines during public health emergencies, visit http://www.rxresponse.org.

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