FDA Perspective: Rare Diseases
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