Burden of funding, driving research on rare diseases too often falls upon patients, families: NORD

An advocate for people with rare diseases today told a U.S. Senate committee that the burden of funding and driving research on rare diseases too often falls upon patients and their families.

"As a society, it is wrong for us to expect people with devastating diseases to fund the search for their treatments," said Diane Dorman, vice president for public policy of the National Organization for Rare Disorders (NORD).  "There are nearly 7,000 rare diseases, and only about 200 of them have treatments.  Many are not being studied by any researcher in government, academia or industry.

"Through golf tournaments, raffles…even bake sales and car washes, it's too often the patient community that funds and drives rare-disease research.  We need a more significant commitment at the federal level."

Dorman said the word "rare" is misleading, since about one in 10 Americans have diseases classified as rare.  While each disease is unique, there are many problems and challenges that all people with rare diseases share, she added.  

Dorman told the committee that federal funding and guidelines are needed for natural history studies, patient registries and other basic tools to make clinical research possible.  And, she said the Food and Drug Administration (FDA) should institute a statement of policy on rare diseases and orphan products to reduce regulatory uncertainty and encourage researchers to develop treatments for diseases that have none.

She also urged the nation's medical schools to enhance training on rare diseases.  "NORD believes our nation is blessed with a caring and dedicated medical establishment," she said.  "But we urge a greater emphasis on rare diseases in medical education centers to prepare young clinicians to treat these diseases and encourage young investigators to study them."

Dorman made her comments in invited testimony before a Senate Committee on Health, Education, Labor, and Pensions hearing on the topic, "Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures."  The hearing was co-hosted by Committee Chair Senator Tom Harkin (D-IA) and Ranking Member Senator Michael B. Enzi (R-WY).

To address the lack of treatments, Dorman told the committee, NORD has launched several recent initiatives that offer hope for the future, working closely with FDA and the National Institutes of Health.  These include:

• a new training course and a handbook to prepare researchers for the special challenges of studying rare diseases
• a task force to help NIH and FDA identify ways to work together more effectively and
• a series of focus groups through which stakeholders—academic researchers, patient organizations, industry, and investors— share their views with NIH and FDA officials.