GRIDS 2026 Symposium

Program Agenda

Advancing Therapeutic Development and Clinical Trials in Lysosomal & Rare Disorders

Tentative program, subject to change. All times are drafts and may be adjusted.

Program format: Standard presentations are 20 minutes, with select 10-minute featured talks. Each session closes with an open Q&A with all of the session’s speakers. Coffee breaks are 15 minutes, and lunch is 60 minutes. The Regulatory Keynote Panel runs 90 minutes in total: three 20-minute talks plus a 30-minute moderated Q&A.

Day 1

Trial Design, Endpoints, Biomarkers & Safety

Sunday, October 18
9:00 AM – 5:30 PM

  1. 8:00 AMBreakfast & check-in
  2. 8:50 AMWelcome, faculty introductions & program overview
  3. 9:00 AM

    Introductory talk

    Thirty Years of Progress and Unfinished Business in Rare Disease Clinical Trials: What Lysosomal Diseases Have Taught Us, and What We Still Get Wrong

    Timothy Cox, MD · University of Cambridge, UK

  4. Regulatory Keynote Panel

    Building Safety Into Your Program from Day One: DRDMG’s Expectations for INDs, NDAs, and BLAs in Lysosomal and Rare Diseases

    9:30 – 11:00 AM

    • 9:30 AMCurrent regulatory expectations, endpoint acceptability, and interpretation of safety signals: what sponsors miss in FDA submissionsOzlem Belen, MD · Former FDA / AstraZeneca, Maryland, USA
    • 9:50 AMSponsor and investigator perspective: 30 years of navigating the FDA from NIH, academia, and industry, and what does and doesn’t work across Fabry, Gaucher, NPC, and leukodystrophy programsRaphael Schiffmann, MD · Texas Christian University, USA
    • 10:10 AMFDA perspective: Regulatory considerations in rare disease drug developmentShamir Tuchman, MD · Deputy Director for Safety, DRDMG, FDA, Maryland, USA
    • 10:30 AMModerated panel Q&A: open discussion with all panelists
  5. 11:00 AMCoffee break

  6. Session 1

    Designing Trials That Succeed in Rare Diseases

    11:15 AM – 1:00 PM

    Moderators: Uma Ramaswami, MD, and Lauren Noll

    • 11:15 AMTrial architecture for small, heterogeneous populations: lessons from NPC, sphingolipidoses, and rare neurodegenerative LSDsRaphael Schiffmann, MD · Texas Christian University, USA
    • 11:35 AMFrom mechanism to protocol: translating scientific discoveries into clinical trial design for lysosomal diseasesShunji Tomatsu, MD, PhD · Nemours Children’s Health, Delaware Valley, USA
    • 11:55 AMFrom design principles to protocol: DNL952 (ETV:GAA) in late-onset Pompe disease as a case study in Phase 1 rare disease trial architecture · 10 minStephanie Austin, MS, CGC · Denali Therapeutics
    • 12:05 PMAdaptive, pragmatic, and decision-focused trial designsTerence Eagleton, MBBS · Medpace, UK
    • 12:25 PMComposite endpoints in lysosomal disorders: AI-driven nGD lung disease as a working model · 10 minSara Mitchell, PA-C · LDRTC, Fairfax, Virginia, USA
    • 12:35 PMSession Q&A: open discussion with all session speakers
  7. 1:00 PMLunch

  8. Session 2

    Developing Clinical Endpoints That Matter to Patients

    2:00 – 3:30 PM

    Measuring meaningful benefit beyond biochemical correction

    Moderators: Uma Ramaswami, MD, and Lauren Noll

    • 2:00 PMAppropriate use of natural history data as external controls: when it works and when it failsDavid Kronn, MD · New York Medical College, USA
    • 2:20 PMEndpoint selection in pediatric-onset lysosomal disorders and prediction of adult outcomesUma Ramaswami, FRCPCH, MD · Royal Free London NHS Foundation Trust, London, UK
    • 2:40 PMPatient-centered outcomes and trial burden in lysosomal disordersTanya Collin-Histed · International GARDIAN, UK
    • 3:00 PMSession Q&A: open discussion with all session speakers
  9. 3:30 PMCoffee break

  10. Session 3

    Biomarkers and Long-Term Monitoring in Clinical Trials

    3:45 – 5:30 PM

    Biomarkers as decision-support tools: distinguishing disease progression from treatment-related risk

    Moderators: Mia Horowitz, PhD, and Caroline Hastings, MD

    • 3:45 PMPharmacodynamic vs. disease-burden biomarkers: Fabry disease as the model caseBehzad Najafian, MD · University of Washington, USA
    • 4:05 PMRenal biomarker harmonization and longitudinal interpretationDavid Warnock, MD · University of Alabama at Birmingham, USA
    • 4:25 PMBiomarkers: their utility in Niemann-Pick type C trials and clinical practiceCaroline Hastings, MD · UCSF Benioff Children’s Hospital Oakland, California, USA
    • 4:45 PMInterpreting biomarker trends in early- and late-treated patients with neuronopathic Gaucher diseaseOzlem Goker-Alpan, MD · LDRTC, Virginia, USA
    • 5:05 PMInflammatory biomarkers in MPS III · 10 minDefne Aybar, MS · LDRTC, Virginia, USA
    • 5:15 PMSession Q&A: open discussion with all session speakers
  11. 5:30 PMEnd of Day 1

Day 2

Therapeutic Modalities & Clinical Implementation

Monday, October 19
9:00 AM – 1:20 PM

  1. Session 4

    Small Molecules, Chaperones & Substrate Reduction: Clinical Reality

    9:00 – 10:00 AM

    Partial responders, CNS vs. peripheral benefit, and durability

    Moderators: Fatih Ezgü, MD, and Derralynn Hughes, MD, PhD

    • 9:00 AMThe clinical trial endpoint journey: lessons learned in designing small-molecule trials for approvalDominique P. Germain, MD, PhD · AP-HP, University of Paris-Saclay, France
    • 9:20 AMLessons from GBA1-associated Parkinson disease trialsAndres Felipe Deik, MD · University of Pennsylvania, USA
    • 9:40 AMThe biology of NPC: what 20 years of basic research revealed about disease mechanism and drug discoveryFrances Platt, PhD · University of Oxford, UK

  2. Session 5

    Enzyme, Biologic & Gene Therapies: Clinical Execution

    10:00 – 11:30 AM

    Immunogenicity, residual disease, and real-world effectiveness

    Moderators: Fatih Ezgü, MD, and Derralynn Hughes, MD, PhD

    • 10:00 AMResidual disease in treated Fabry patients and implications for future trialsDerralynn Hughes, MD, PhD · Royal Free Hospital / UCL, London, UK
    • 10:20 AMNeuronopathic lysosomal disorders in the treated era: biomarkers, neurocognition, and residual diseaseJoseph Muenzer, MD, PhD · University of North Carolina at Chapel Hill, USA
    • 10:40 AMChallenges in global clinical trial execution for sphingolipidosesFatih Ezgü, MD · Gazi University Faculty of Medicine, Ankara, Turkey
    • 11:00 AMSession Q&A: open discussion with all session speakers
  3. 11:30 AMCoffee break

  4. Session 6

    Gene Therapy: Clinical Trial & Post-Trial Reality

    11:45 AM – 1:20 PM

    Clinical management after dosing

    Moderators: Ozlem Goker-Alpan, MD, and Lauren Noll

    • 11:45 AMDurability of response and loss of efficacy following gene therapyArian G. Pano, MD · GeorgeP Consulting LLC, Massachusetts, USA
    • 12:05 PMWhen stabilization equals success: endpoints in neurodegenerative lysosomal disordersRoberto Giugliani, MD, PhD · Medical Genetics Service, HCPA / Department of Genetics, UFRGS, Brazil
    • 12:25 PMImmune risk stratification and patient eligibility criteria for gene therapy trialsCoy D. Heldermon, MD, PhD · University of Florida, USA
    • 12:45 PMSession Q&A: open discussion with all session speakers
    • 1:15 PMClosing remarks & adjournment: Program Chair
  5. 1:20 PMEnd of program

Attendee information

Accommodations & Travel

Complimentary airport shuttle

LDRTC provides a complimentary shuttle from Orlando International Airport (MCO) to the venue, the Hilton Melbourne Beach Oceanfront.

To request a seat, email your flight information to UyenSa Dinh (Beese) at ldrtc2018@gmail.com.