8:50 am Chair’s Opening Remarks

Optimizing Your Clinical Trial Design

9:00 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

9:30 am Understanding First-Response Metabolic Rescue Mechanisms in IEM Disorders


• Compensatory rescue mechanisms and associated consequences in IEM disorders
• Can redirecting first-response metabolic rescue pathways further enhance energy metabolism and minimize toxicity?
• Are cultured patient-derived fibroblasts an appropriate surrogate for conducting research in IEM disorders?

10:00 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

10:30 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)

11:00 am Morning Refreshments & Networking

Overcoming Barriers to Patient Access for Rare Populations

11:30 am The National PKU Alliance: Improving the Lives of Individuals with PKU & Pursuing a Cure

  • Lex Cowsert Director of Research, National PKU Alliance


• The NPKUA established and maintains a PKU Patient Registry that serves as a natural history study platform to better understand how PKU changes over time and was developed in collaboration with both the NIH and FDA
• NPKUA’s expert staff helps companies ensure development efforts include the patient voice
• The NPKUA has close working relationships with federal stakeholders, including the FDA and NIH. The NPKUA is available to companies and can be included in meetings with these entities as your partner in articulating the needs and hopes of the PKU patient community

12:00 pm Patient Engagement in Rare Metabolic Disease Studies


• The challenges of designing patient-centric clinical trials: How to include the patient voice in study design
• Enrolment strategies to find the right patients for the right trials
• Exploring how to study family support and maximize subject retention

12:30 pm Lunch & Networking

1:30 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

2:00 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

2:30 pm Afternoon Refreshments & Networking

Addressing the Approval, Investment & Reimbursement Challenges of IEM Drug Development

3:30 pm Early Commercial Strategy for Rare Indications

  • Michael Blum Vice President, Commercial Strategy, Homology Medicines


• Exploring best practice for trial indication selection
• Setting up an early commercial strategy that works to maximize the commercial potential of your therapeutic
• Approval and Reimbursement 101: Key strategic lessons that are imperative to achieve commercial success

4:00 pm The Commercialization Continuum: Listening & Responding to the Market Early in Drug Development


• Improve early-stage decision making by utilizing robust metrics such as unmet need, competition, epidemiology and pricing potential
• Guiding development of the Target Product Profile (TPP)

4:30 pm Chair’s Closing Remarks