How Do We Best Serve Rare and Small Patient Populations
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How Do We Best Serve Rare and Small Patient Populations

20 Jan 2023
Patient and Clinical Considerations Track
PharmaLex GmbH (Biopharma excellence)

11:00am Chair Introduction

Christian Chabannon, Head of Center for Cell Therapy, Institut Paoli-Calmettes, Marseille, EBMT & GoCART


11:05am Presentation: Gene Therapy for Rare Diseases: Can We Go Faster and Still Get It Right?

  • Scientific advances have made gene therapy a reality for a small number of rare diseases
  • Rigorous natural history studies and clinical trials will be necessary for efficient development of gene therapies

Wilson Bryan, Director, Office of Tissues and Advanced Therapies, FDA


11:20am Presentation: Bayesian Adaptive Statistical Approaches for Facilitating Drug and Medical Device Approvals in Rare Disease

Bullet points: 

  • Development and approval in rare disease is hampered by small sample sizes that preclude traditional statistical approaches, since they cannot deliver sufficient statistical power while simultaneously controlling Type I error (false positive) rate.
  • Bayesian statistical methods facilitate incorporation of auxiliary information that can augment effective trial sample size, permitting development to continue.  Possible sources of auxiliary information include previous RCTs, historical databases, natural history studies, disease registries, real-world evidence, and expert opinion.
  • Regulatory agencies (especially in the United States) have increasingly embraced such methods. In particular, the FDA’s Complex Innovative Trial Design (CID) Pilot Meeting program (since August 2018) and its Accelerating Rare Disease Cures (ARC) program (since May 2022) both seek to speed and increase development in rare and pediatric disease.

 Brad Carlin, Senior Advisor, Statistics and Data Science, PharmaLex – US


11:35am Presentation: A Parents’ Journey Through Drug Development”: How Angelman Syndrome is Making the Impossible Possible

  • This talk will discuss the journey of a motivated and sophisticated community who moved from a vision for transformative treatment to starting a company which launched the first in human ASO for Angelman syndrome.
  • This will incorporate a day in the life of parents as This type of roadmap is navigated

Allyson Berent, Chief Science Officer, Foundation for Angelman Syndrome Therapeutics (FAST)


11:50am Presentation: The Ultra-Rare Conundrum – Gene Therapy on a Small Scale

Sharon Hesterlee, Chief Research Officer, Muscular Dystrophy Association USA


12:05pm Closing Panel with Q&A

With all session participants, Joined by:

Tom Whitehead, Co-Founder, Emily Whitehead Foundation


Wilson Bryan
Director, Office of Tissues and Advanced Therapies
Brad Carlin
Senior Advisor, Statistics and Data Science
PharmaLex GmbH (Biopharma excellence)
Allyson Berent
Chief Science Officer
Foundation for Angelman Syndrome Therapeutics
Sharon Hesterlee
Executive Vice President, Chief Research Officer
Muscular Dystrophy Association USA