FDA Brief: Week of Feb 29, 2016



Encouraging drug development for rare diseases

by: Jonathan Goldsmith, M.D., FACP, Associate Director for Rare Diseases in the Office of New Drugs

Challenges in rare disease drug development and steps to address


Rare Diseases : Affects < 200,000 people in the US. Approximately 7,000 different rare diseases, collectively affecting as many as 30 million people or about 10 percent of the U.S. population.

Orphan drug designation:  Instituted by 1983 Orphan Drug Act.Introduced financial incentives including 7 years of market exclusivity, waiver of a prescription drug user fee, and other tax benefits.

Orphan drug must still demonstrate safety and effectiveness through adequate and well-controlled studies.


  • Small size: Finding enough patients for studies, difficulty for medical practitioners to develop expertise
  • Restrictive clinical study design and replication. Large, placebo-controlled, randomized trials or repetition of even small trials are not always feasible
  • ‘Flexibility’ in regulatory evidence :  Requirements for drug approval, acceptability of end points, innovative statistical design
  • Natural history of disease progression : Poorly or incompletely understood.
  • Lack of support groups for many rare diseases

Increasing awareness – Rare Disease Day

  • US joined in 2009; 80 countries participate in event held annually on the last day of February
  • FDA’s Office of Orphan Products Development and CDER’s Rare Diseases Program present programmatic updates
  • Increased recognition of rare diseases from industry and the public

FDA supports orphan drug developers

  • Annual staff training and issues guidance document
  • Patient-focused drug development meetings
  • FDA Rare Disease Council to discuss rare disease issues

Working together for new therapies to treat rare diseases

  • FDA goal of increased access to quality drug treatments
  • Continued  collaboration with industry and other stakeholders
  • Maintain momentum spurred by the Orphan Drug Act and Rare Disease Day



FDA providing $2 million in new grants for natural history studies in rare diseases

  • FDA Orphan Products Grants
  • AIM to collect data on how specific rare diseases progress in individuals over time (‘Natural History’) so that knowledge can inform and support product development and approval
    • Characterize natural history
    • Identify subpopulations
    • Develop and/or validate clinical outcome measures, biomarkers and companion diagnostics




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