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)
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. Scroll down to view the recording and workshop materials.
Denali Therapeutics, Orchard Therapeutics, REGENXBIO Inc., and Ultragenyx provided funding for this event.
Watch the Morning Sessions
- Watch Biomarkers in Rare Genetic Diseases
- Watch Case Study: Understanding Neuronopathic Mucopolysaccharidoses (MPS)
- Watch Case Study: Measuring Glycosaminoglycans (GAGs), including Heparan Sulfate (HS)
- Watch the Q&A Session with the Morning Case Study Presenters
Watch the Afternoon Sessions
- Watch Case Study: Animal Model Translation to Human Application
- Watch Case Study: Relationship Between Cerebrospinal HS Levels and Clinical Outcomes
- Watch the Q&A Session with the Afternoon Case Study Presenters
- Watch the Panel Discussion on Challenges in Qualifying Biomarkers to Support Rare Disease Approvals