Qualifying Biomarkers to Support Rare Disease Regulatory Pathways
Case example: Heparan sulfate in neuronopathic lysosomal storage diseases

Public Workshop: In-Person and Virtual
February 21, 2024 | 10am-4pm (eastern)

Map
In-person venue:
1333 New Hampshire Ave. NW, Washington, DC 20036

On February 21 we convened "Qualifying Biomarkers to Support Rare Disease Regulatory Pathways," a day-long hybrid public workshop.

This workshop explored primary disease activity biomarkers in rare genetic
diseases using heparan sulfate in neuronopathic mucopolysaccharidoses (MPS)
as a case study for a biomarker to support accelerated approval. Featured
perspectives included FDA representatives, patient advocates, researchers, and representatives from regulated industry.

This was a hybrid event with an option to participate in-person or remotely.

View Workshop Slides

 

Denali Therapeutics, Orchard Therapeutics, REGENXBIO Inc., and Ultragenyx provided funding for this event.

Agenda

10:00am

 

Welcome & Opening Remarks

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

10:10am

 

Biomarkers in Rare Genetic Diseases

  • Peter Marks, MD, PhD, Center for Biologics Evaluation and Research, FDA

10:40am

 

Case Study: Understanding Neuronopathic Mucopolysaccharidoses (MPS)

  • Mark Dant, Ryan Foundation
  • Joseph Muenzer, MD, PhD, Univ. of North Carolina at Chapel Hill

11:20am

 

Case Study: Measuring Glycosaminoglycans (GAGs), including Heparan Sulfate (HS)

  • Maria Fuller, PhD, University of Adelaide
11:50am Q&A Session with Morning Case Study Presenters
12:10pm Lunch Break (provided)

12:40pm

 

 

Case Study: Animal Model Translation to Human Application

  • Nidal Boulos, PhD - REGENXBIO Inc.
  • Patricia Dickson, MD - Washington University School of Medicine, St. Louis
  • Matthew Ellinwood, DVM, PhD - National MPS Society

1:20pm

 

 

Case Study: Relationship Between Cerebrospinal HS Levels and Clinical Outcomes

  • Simon Jones, MBChB, University of Manchester
  • Heather Lau, MD, MS - Ultragenyx
  • Eric Zanelli, PhD, Allievex
2:05pm Q&A Session with Afternoon Case Study Presenters
2:35pm Break

2:45pm

 

 

 

 

 

Panel Discussion: Challenges in Qualifying Biomarkers to Support Rare Disease Approvals

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

  • John Crowley, JD, MBA, Amicus Therapeutics, Inc., Biotechnology Innovation Organization (incoming) 
  • Cherie Fathy, MD, MPH, Center for Biologics Evaluation and Research, FDA
  • Carole Ho, MD, Denali Therapeutics
  • Gavin Imperato, MD, PhD, Center for Biologics Evaluation and Research, FDA
  • Edward Neilan, MD, PhD, National Organization of Rare Diseases
  • Cara O'Neill, MD, Cure Sanfilippo Foundation
  • James Wilson, MD, PhD, University of Pennsylvania
3:55pm Closing Remarks
4:00pm Adjourn