Primary Mitochondrial Diseases

A Virtual Rare Disease Workshop
May 22, 2025 | 10am-4pm (eastern)

The Reagan-Udall Foundation for the FDA, in collaboration with the Food and Drug Administration (FDA), will host a virtual, public workshop on "Primary Mitochondrial Diseases."

As part of the Foundation's rare disease focus, this workshop will explore opportunities to optimize therapeutic development addressing primary mitochondrial diseases and best practices in designing and interpreting clinical studies that can produce meaningful data to accelerate drug development. Speakers will include patient advocates, academic researchers, regulated industry, healthcare providers, and other key stakeholders.

Register

Agenda

10am

Welcome

  • Susan C. Winckler, RPh, Esq., Reagan-Udall Foundation for the FDA

10:05am

FDA Opening Remarks

  • Catherine Pilgrim-Grayson, MD, MPH, Center for Drug Evaluation and Research, FDA

10:10am

Setting the Stage: A Variety of Perspectives

  • Michio Hirano, MD, Columbia University Medical Center
     

Clinical Trial Design and Implementation: Patient Population Considerations

  • Anna Choe, MD, MPH, Center for Drug Evaluation and Research, FDA
     

Primary Mitochondrial Disease Drug Development

  • Reenie McCarthy, JD, Stealth BioTherapeutics

11:05am

Reactor Panel

  • Marni Falk, MD, Children's Hospital of Philadelphia & University of Pennsylvania Perelman School of Medicine
  • Brian Tseng, MD, PhD, The POLG Foundation
  • Philip Yeske, PhD, United Mitochondrial Disease Foundation

11:35am

10-minute Break

11:45am

Selecting Patient-focused Outcomes and Statistical Considerations

  • Naomi Knoble, PhD, Center for Drug Evaluation and Research, FDA
  • Yan Wang, PhD, Center for Drug Evaluation and Research, FDA

12:15pm

Presentation on Clinical Outcome Assessment Example

  • Amel Karaa, MD, Massachusetts General Hospital & Harvard Medical School

12:30pm

Reactor Panel

  • Kasey Woleben, Cure Mito Foundation
  • Zarazuela Zolkipli-Cunningham, MBChB, MRCP, Children's Hospital of Philadelphia & University of Pennsylvania Perelman School of Medicine

1pm

Break

1:30pm

Current Approaches, Challenges, and Opportunities

  • Chad Glasser, PharmD, MPH, Tisento Therapeutics
  • Magnus Hansson, PhD, Abliva AB, A Member of Pharming Group

Q&A (20 minutes)

2:30pm

Using What We've Learned To Move Forward

  • Amel Karaa, MD, Massachusetts General Hospital & Harvard Medical School
  • Kerry Jo Lee, MD, Center for Drug Evaluation and Research, FDA
  • Jason Colquitt, Across Healthcare
  • Sophia Zilber, Lived Experience Perspective

3:30pm

Closing Remarks and Adjourn