Collaboration is Key in Rare Disease Research and Development


Partnerships between patient groups, industry, government and academia are accelerating the research and development of new treatments for rare diseases, many of which have no effective therapies. As a result of the Food and Drug Administration’s (FDA) Orphan Drug Designation, eligible companies receive incentives for product development such as tax credits for qualified clinical testing and new drugs are reaching patients sooner. Since 1983, more than 400 drugs and biologic products for rare diseases have been developed, far outpacing the number of products that were available some 40 years ago. Amyotrophic lateral sclerosis (ALS) is among the nearly 7,000 rare diseases where very few treatments currently exist. The ALS Association recently released the first patient-focused Guidance for ALS drug development that will be submitted to the FDA. The blueprint will include recommendations on how the FDA should approach therapies for ALS with a goal of speeding the drug development process.

On the legislative front, the U.S. Senate Health, Education, Labor & Pensions (HELP) Committee passed several medical innovation bills, a companion to the House-passed 21st Century Cures Act, that include provisions to repurpose approved therapies for rare diseases. The Patient-Focused Impact Assessment Act, one of the bills approved in committee, aims to increase the FDA’s engagement with patients and encourage collaboration between the agency, industry, and patient groups throughout the development and approval process.

This year’s BIO International Convention will feature a panel discussion on Wednesday, June 8th, entitled “Rise to the Challenge: Incorporating the Patient Perspective in a Regulated Environment to Bring Orphan Drugs to Market with Speed” to expound on this issue as a part of the Orphan and Rare Disease track at the convention. The session will highlight the patient, industry and federal perspective and discuss the benefits of engaging stakeholders at every level of orphan drug development. Moderated by Wendy White, Senior VP of Rare Disease at Dohmen Life Science Services, the panel also features Steve Gibson, Chief Mission Strategy and Public Policy Officer at the ALS Association, Richard Moscicki, Deputy Center Director for Science Operations at the FDA, Stephanie Okey, Board Member of the California Life Sciences Association, and Suyash Prasad, Senior VP and Chief Medical Officer at Audentes Therapeutics.

The BIO International Convention, to be held in San Francisco June 6 – 9, attracts more than 15,000 scientists, biotech leaders and entrepreneurs to provide insights and inspirations on major trends in the industry. Research!America will also host a panel discussion on immorbidity and personalized medicine at the convention on June 8 featuring Research!America board members Bill Hait, M.D., Ph.D., Global Head Janssen Research & Development, LLC and Keith Yamamoto, Ph.D, Vice Chancellor for Science Policy and Strategy; Vice Dean for Research, School of Medicine, University of California, San Francisco. For more information, visit

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Paul Marinec, PhD; University of California San Francisco