Another tool helping developers navigate the difficult road to approval of drugs for rare diseases

By: Jonathan Goldsmith, M.D., F.A.C.P.

If you personally know 100 people living in the U.S., chances are that almost 10 will suffer from some form of a rare disease. If that makes it sound like rare diseases are not actually very rare in this country, that’s because there are 7,000 different rare diseases, 80% of which are caused by faulty genes. A rare disease is defined as a condition that affects fewer than 200,000 people living in the U.S., a country with almost 320 million people. When we do the math, it turns out there are roughly 30 million Americans who suffer from a rare disease. And sadly, about 50% are children.

Dr. Jonathan GoldsmithWith the vast majority of rare diseases still without FDA-approved treatments, we have recently released a new resource for drug developers — a draft guidance document — designed to help them navigate the difficult and unique challenges of developing and bringing to market new FDA-approved drugs to treat rare diseases.

When it comes to finding ways to test new treatments for rare diseases, we often cannot rely on the same methods that we use for testing treatments for more common, well-known diseases, such as diabetes or high blood pressure. Here’s why: In rare diseases, new drug development is especially challenging due to the small numbers of people affected by each disease, the lack of medical understanding of the disorder (because relatively few people suffer from it), and the lack of well-defined study results (endpoints) that can demonstrate that a potential treatment for a rare disease is safe and effective.

The new draft guidance is intended to help drug developers create more accurate and timely drug development programs by encouraging

  • a focus on understanding a disease’s “natural history,”
  • creation of study designs with clinically meaningful endpoints,
  • development of evidence needed to establish safety and effectiveness,
  • and the establishment of drug manufacturing specifications to ensure quality.

It is also important to note that FDA regulations provide flexibility in applying regulatory standards because of the many types and intended uses of drugs. Such flexibility is particularly important for treatments for life-threatening and severely-debilitating illnesses and rare diseases.

Our guidance document will help us build on the gains we’ve made in helping patients with rare diseases. Since the passage of the Orphan Drug Act in 1983, the number of new requests for orphan designation has continued to rise. In 2014 we saw 469 requests, the highest number of new requests in one year. Also in 2014, an unprecedented 41 percent of all novel new drugs (17 of 41) approved by FDA’s Center for Drug Evaluation and Research were for the treatment of rare diseases.

Our guidance document is intended to encourage drug developers to think early on in the process about all aspects of their program — and encourages careful planning which includes a foundation in strong science. Drug developers for rare diseases are often pioneers. Pioneers need maps and tools to guide them. We see this guidance as another important resource to help support their efforts.

FDA is committed to working with all drug developers and stakeholders to establish successful drug development programs that include regulatory flexibility, creative approaches and a scientifically sound basis.

Jonathan Goldsmith, M.D., F.A.C.P., is FDA’s Associate Director, Rare Diseases Program, Center for Drug Evaluation and Research

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