Learn More About Medicines in Development for Rare Diseases

Medicines in Development for Rare Diseases

Rare diseases, taken together, aren’t "rare" at all. In fact, according to the National Institutes of Health, 25-30 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. Sometimes, only a few hundred Americans are known to have a particular rare disease.

Simply getting a diagnosis often becomes a quest, since a long series of doctors may have never heard of or seen the disease. Sometimes, patients and parents of a sick child are initially relieved when told they or their child has a disease they’ve never heard of, because finally they have a name to give the suffering. With new optimism in their voices they often ask: “What medicines or surgeries can help them?” Too often, the terrible answer is, “None.”

This is, however, a time for hope. Biopharmaceutical research is entering an exciting new era with a growing understanding of the genome. Scientific advances have given researchers new tools to explore more rare diseases, which are often more complex than common diseases. Since 1983, more than 350 medicines have been approved to treat rare diseases, compared to fewer than 10 in the 1970s. 

Moreover, the Orphan Drug Act of 1983 provided incentives, for example a longer period of marketing exclusivity, for drugs that are not expected to recoup their development costs or that are targeted at diseases affecting fewer than 200,000 people. Under the Orphan Drug Act, 2,313 medicines have been designated orphan drugs by the U.S. Food and Drug Administration (FDA) as of January 24, 2011. These medicines are in all stages of development and some will eventually gain approval. Over the last few years, new medicines have been approved for Pompe disease, which causes among other symptoms an engorged heart. Other recently approved treatments are for rare cancers and myelodysplastic syndromes, which are pre-leukemia diseases affecting blood marrow.

America’s biopharmaceutical research companies are continuing that progress. The 460 medicines for rare diseases currently in development are all in later stages of the pipeline, meaning in clinical trials or under review by the FDA. A major area of research involves rare cancers. Solid tumors of the liver and thyroid, cancer of the blood and melanoma, or skin cancer, account for more than one-third of all rare disease drugs under development.

Other major areas of research include: genetic disorders, such as cystic fibrosis, with 67 medicines in development; neurologic disorders, such as multiple sclerosis and muscular dystrophy, with 37 medicines in development; infectious diseases, such as anthrax and West Nile virus, with 31 medicines in development.

Other examples include a medicine in development for epidermolysis bullosa, a group of inherited disorders where skin blisters develop in response to minor trauma, and one for Friedreich’s ataxia, a genetic disease that causes degenerative nerve damage in children.

With continued innovation, we hope that one day, whenever the question is asked, “How can we help them?” there always will be an encouraging answer.

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