Program Agenda
Advancing Therapeutic Development and Clinical Trials
in Lysosomal & Rare Disorders
Program format: Each presentation is 20 minutes, with an open Q&A involving all session speakers at the end of each session. Coffee breaks are 15 minutes and lunch is 60 minutes. The Regulatory Keynote Panel runs 90 minutes total (introductory talk + three panelist perspectives + moderated Q&A).
Thirty Years of Progress and Unfinished Business in Rare Disease Clinical Trials: What Lysosomal Diseases Have Taught Us — and What We Still Get Wrong
What It Takes to Get It Approved: Navigating FDA Expectations in Lysosomal and Rare Disease Clinical Development
- 9:40 AMFrom Discovery to Approval: The complexities in translating scientific discoveries into approved therapies
- 9:55 AMCurrent regulatory expectations, endpoint acceptability, and interpretation of safety signals; what sponsors miss in FDA submissions
- 10:10 AMSponsor / Investigator Perspective: 30 years navigating FDA from NIH, academia, and industry — what works and what does not across Fabry, Gaucher, NPC, and leukodystrophy programs
- 10:25 AMFDA Perspective: Regulatory considerations in rare disease drug development, followed by moderated panel Q&A
Designing Trials That Succeed in Rare Diseases
11:05 AM – 12:50 PM- 11:05 AMTrial architecture for small, heterogeneous populations — lessons from NPC, sphingolipidoses, and rare neurodegenerative LSDs
- 11:25 AMAdaptive, pragmatic, and decision-focused trial designs
- 11:45 AMBayesian and adaptive methodologies that are acceptable to regulators
- 12:10 PMUse of composite endpoints in Gaucher disease and other rare disorders
- 12:30 PMSession Q&A — Open discussion with all session speakers
Developing Clinical Endpoints That Matter to Patients
1:30 – 3:00 PMMeasuring meaningful benefit beyond biochemical correction
- 1:30 PMAppropriate use of natural history data as external controls: when it works and when it fails
- 1:50 PMEndpoint selection in pediatric-onset lysosomal disorders and prediction of adult outcomes
- 2:10 PMPatient-centered outcomes and trial burden in lysosomal disorders
- 2:30 PMSession Q&A — Open discussion with all session speakers
Biomarkers and Long-Term Monitoring in Clinical Trials
3:15 – 5:05 PMBiomarkers as decision-support tools; distinguishing disease progression from treatment-related risk
- 3:15 PMPharmacodynamic vs. disease-burden biomarkers: Fabry disease as the model case
- 3:35 PMRenal biomarker harmonization and longitudinal interpretation
- 3:55 PMBiomarkers for patient selection and enrichment in NPC trials: oxysterols, NfL, and cholestane-triol
- 4:15 PMInterpreting biomarkers in treated and late-treated patients: when numbers mislead
- 4:35 PMSession Q&A — Open discussion with all session speakers
Small Molecules, Chaperones & Substrate Reduction: Clinical Reality
9:00 – 10:00 AMPartial responders, CNS vs. peripheral benefit, and durability
- 9:00 AMThe clinical trial endpoint journey, and lessons learned on how to design a trial for approval for small molecules
- 9:20 AMLessons from GBA1-associated Parkinson disease trials
- 9:40 AMNPC as the case study: NALL, the NPCCSS endpoint journey, and lessons from a CRL to first FDA approval
Enzyme, Biologic & Gene Therapies: Clinical Execution
10:00 – 11:45 AMImmunogenicity, residual disease, and real-world effectiveness
- 10:00 AMResidual disease in treated Fabry patients and implications for future trials
- 10:20 AMNeuronopathic lysosomal disorders in the treated era: biomarkers, neurocognition, and residual disease
- 10:40 AMChallenges in global clinical trial execution for sphingolipidoses
- 11:00 AMSession Q&A — Open discussion with all session speakers
Gene Therapy: Clinical Trial & Post-Trial Reality
11:45 AM – 1:30 PMClinical management after dosing
- 11:45 AMDurability of response and loss of efficacy following gene therapy
- 12:05 PMWhen stabilization equals success: endpoints in neurodegenerative lysosomal disorders
- 12:25 PMPost-trial monitoring and real-world implementation following gene therapy
- 12:45 PMImmune risk stratification and patient eligibility criteria for gene therapy trials
- 1:05 PMSession Q&A — Open discussion with all session speakers
- 1:25 PMClosing Remarks & Adjournment
Complimentary Airport Shuttle
LDRTC provides a complimentary shuttle from Orlando International Airport (MCO) to the venue, the Hilton Melbourne Beach Oceanfront.
Please send your request and flight information to Uyensa Dinh (Beese) at Ldrtc2018@gmail.com.
