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Conference Program

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Regulatory Updates and Insights into Drug Development and Clinical Trial Design for Rare Diseases

13 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 717 AB
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical-Adult & Pediatric
  • Level of Learner:
    • Basic
Important advances in genetic diagnostics and drug development have ushered in an era of unprecedented progress addressing the unmet need for treatments for rare diseases that together affect over 30 million Americans. Since the enactment of the Orphan Drug Act in 1983, more than 550 unique drugs and biologics have been approved for over 1,100 rare disease indications. More than one third of the drugs and biologics approved for rare disease indications were approved in the last 5 years. [1] The US Food and Drug Administration (FDA) Office of New Drugs (OND) has undergone significant re-organization and created a number of new programs dedicated to the advancement of regulatory science for rare disease drug development, including the creation of the Division of Rare Diseases and Medical Genetics (DRDMG) in 2020 from which the Accelerating Rare disease Cures (ARC) program was created in 2022. More recently, the Rare Disease Endpoint Advancement (RDEA) Pilot Program, a joint effort from the Center for Drug Evaluation and Research (CDER) and the Center for Biologics Evaluation and Research (CBER), was created to support novel endpoint development.

Nevertheless, drug development for rare disorders remains challenging and the unmet needs remain vast. While the total number of rare diseases is large and growing, there are typically small numbers of patients eligible to enroll in proposed clinical trials, making clinical trial design and interpretation of trial data challenging. The lack of established endpoints, including biomarkers and clinical outcome measures, is a challenge for many rare disease drug development programs at both the pre-clinical and clinical stages. Lastly, the lack of drug development precedent for most rare diseases—some of which may have either a handful of cases or even just one—adds to the complexity both in developing drugs and in considering the risks and benefits of potential treatment options at the patient bedside.

In this session we will provide an overview of recent rare disease approvals, highlighting relevant challenges and lessons learned. This overview will be followed by presentations that aim to highlight (1) the benefit of early engagement with the FDA to optimize clinical trial design and endpoint selection using relevant case examples, (2) the nuts-and-bolts of academician opportunities for interactions with the FDA including IND submissions and other avenues for investigator research and collaboration,  and (3) methods for increasing diversity and inclusion in clinical trials through patient engagement and innovative trial design. Finally, we will end with a panel discussion to allow for audience questions and discussion with our speakers, all of whom are experienced FDA clinical reviewers, lead physicians, and/or regulatory division leaders focused on the advancement of treatments for rare genetic diseases.
[1] U.S. Food and Drug Administration, Search Orphan Drug Designations and Approvals. (accessed 19 Apr 2023).

Learning Objectives

  1. Recognize challenges in rare disease drug development and trial design as evidenced by recent FDA drug approvals
  2. Recognize familiar FDA guidances and concepts behind clinical trial design and endpoint selection for rare diseases
  3. Differentiate IND types and other opportunities for academic researchers and investigators to engage with the FDA
  4. Demonstrate ability to inform patients and advocates about the rationale for increasing patient diversity in clinical trials