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Background and Meeting Objectives

On May 16 and 17, 2022, the FDA’s Center for Drug Evaluation and Research (CDER) and NIH’s National Center for Advancing Translational Sciences (NCATS) hosted a jointly sponsored virtual workshop on regulatory fitness in rare disease clinical trials.

Advances in rare diseases, particularly in the field of genetics, result in an active, highly innovative, and rapidly evolving area of science and drug development. Nonetheless, rare disease drug development represents an area of high unmet medical need. There are many challenges in rare disease drug development that are broadly recognized by the rare disease drug development community, such as:

• The large number of different rare diseases (more than 7,000)
• The small number of patients with the individual disorders which can make clinical trial design and interpretation challenging
• The lack of drug development precedent for most rare diseases
• The lack of established endpoints, including biomarkers and clinical outcome measures, for some rare disease clinical trials

Academic investigators, patient groups, and small or emerging pharmaceutical and biotechnology companies play a critical role in rare disease drug development and are often the sponsors for rare disease drug development, but they may lack regulatory experience. This workshop focused on academic investigators and those looking to learn how to bridge the gap between academic investigation and the regulatory aspects of drug development.

This workshop:

• Provided lessons on the fundamentals of drug development and included discussion of rare disease case studies shared by academic investigators
• Shared experiences and expertise from multi-disciplinary stakeholders
• Discussed regulatory considerations for rare disease clinical trials
• Explored topics such as:
  • Adequate and Well-Controlled Trials
  • Core Principles for Clinical Trials
  • The Nuts and Bolts of Investigational New Drug (IND) Applications and Additional Considerations
  • Additional Pathways to Interact with the FDA CDER
  • Case Studies

Participation in this workshop allowed attendees to improve their familiarity and understanding of federal regulations, guidelines, and approaches for good quality rare disease clinical trials. While specific questions about applications were not addressed, topics in general were discussed and case studies were presented as learning examples.

Recordings of the Workshop:

Day 1 Recording

Day 2 Recording

For more information on the workshop, please visit Regulatory Fitness in Rare Disease Trials Workshop.

For questions, please email:

CDER-NCATS Rare Disease Workshop

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