8:10 am Coffee & Registration

9:10 am Chair’s Opening Remarks

Optimizing Your Clinical Trial Design

9:20 am A Clinical Trial Design Case Study: CNSA 001

  • Neil Smith VP, Research and Development, Censa Pharmaceuticals


• Utilizing a patient centric methodology for clinical trial design to better understand what a meaningful outcome is for the patient
• Exploring how to design clinical trials to maximize patient participation
• Why collaboration with regulators is key to build a successful clinical trial with meaningful outcomes

9:50 am Next-Generation Antibody-Guided Enzyme Replacement Therapy for Lysosomal Diseases

10:20 am Morning Refreshments

10:50 am Phase 2-3 gene therapy trial using adeno-associated virus vector for patients with mucopolysaccharidosis type IIIA


• A gene therapy approach for MPSIIIA is promising when delivered directly to the brain enabling transduction of neurons, which in turn can lead to sufficient levels of active enzyme to cross-correct neighboring cells.
• AAVance is a Phase 2-3, single-arm, international study of AAV serotype rh.10 carrying the human SGSH (AAVrh.10-SGSH) for the treatment of MPS IIIA (NCT03612869).
• Description of the natural history data to serve as an external control group and status of the Phase 2-3 study will be presented

11:20 am Designing Clinical Trials to Achieve the Target Product Profile (TPP)


• The importance of a robust Target Product Profile (TPP)
• Designing a clinical program of studies to achieve the TPP
• Superiority vs Noninferiority trial designs in the context of rare disease studies
• Choice of comparators (active-control, Natural history studies, placebo-control)

11:50 am Lunch & Networking

Overcoming Barriers to Patient Access for Rare Populations

12:50 pm Industry-Academia Collaborations for Accelerating Therapeutic Innovations in Rare IEM Disorders

  • Reena Kartha Associate Director Translational Pharmacology, Center for Orphan Drug Research, University of Minnesota


• Importance of industry-academia collaborations to address an unmet need in ultra-rare IEM disorders
• Discuss potential avenues for collaboration with examples
• Provide overview on how patient advocacy groups can initiate such interactions

1:20 pm Patient Engagement Throughout the Drug Development Process in Genomic Medicines


• Emphasizing the importance of early engagement for clinical trial recruitment
• How to design a compelling engagement process in order to maximize patient trial retention
• A case study of patient engagement for rare metabolic disease clinical trials

1:50 pm Development of Leriglitazone in Rare Neurodegenerative Diseases

2:20 pm Close of Day Two