2025 Global CMT Research Convention

Agenda

Scientific Program

Thursday, September 25, 2025: 

Check in Begins at 12:00 PM

12:30 PM: Emerging Researcher  Forum

  • For Registered Participants Only

2:30 PM: Welcome

2:35 PM: Genetic Models for CMT

  • Steven S. Scherer, MD, PhD, Emeritus Professor of Neurology, University of Pennsylvania

3:00 PM: Session: Emerging CMT Drug Development Research Updates

  • Targeting SARM1 and Axon Degeneration as a Design-Modifying Strategy for the Treatment of CMT2A
    • Bradlee Heckmann, PhD, Co-founder, President, Chief Scientific Officer, Asha Therapeutics
  • Targeting Cytosolic HDAC6 Inhibition for the
    Treatment of CMT and Beyond: From Basic Research to Initial Clinical Studies
    • Carl Bjartmar, MD, PhD, Chief Medical Officer, Augustine Therapeutics
  • Advancing Medicines for Charcot-Marie-Tooth Disease: Development of Antibody Oligonucleotide Conjugates for Peripheral Nerve Delivery
    • Carlos Loya, PhD, Venture Partner, 82VS

4:00 PM: Break

4:30 PM: Session: Gene Therapy Advancements for CMT

  • AAV Vector Delivery Strategies for Peripheral Nerves
    • Casey Maguire, PhD, Associate Professor of Neurology, Harvard Medical School,  Investigator, Associate Professor of Neurology, Mass General Research Institute
  • Next-Generation Strategies for Next-Generation Schwann Cell Targeting Therapeutics
    • Leszek Lisowski, MD, PhD, Unit Head, Translational Vectorology Unit, Children’s Medical Research Institute
  • Intrathecal Gene Replacement for IGHMBP2-related Conditions
    • Megan Waldrop, MD,  Pediatric Neurologist, Nationwide Children’s Hospital, Assistant Professor of Pediatrics and Neurology, The Ohio State University College of Medicine
  • Advancing Polymer Nanoparticle Delivery of Therapeutic NF1 Signaling Epigenetic Regulatory Protein Payloads to Schwann Cells
    • Ken Sims, PhD, Senior Materials Scientist, Battelle

6:00 PM: Oral Presentations From Selected Abstracts

  • Small Molecule Modulation of PMP22 Expression and Trafficking
    • Mason Wilkinson, PhD Candidate, Vanderbilt University
  • 3D cellular model of myelination using Human induced Pluripotent Stem Cells to study CMT4C
    • Anne-Sophia Lia, PhD, Senior Lecturer and Hospital Practitioner at the University of Limoges, France
  • N-of-1 personalized medicine for CMT2S: From patient-specific preclinical modeling to first-in-human dosing
    • Sandra Smieszek, PhD, Head of Genetics, Vanda Pharmaceuticals

6:30 PM: Welcome Reception + Poster Viewing

Friday, September 26, 2025: 

8:00 AM: Breakfast & Networking

9:00 AM: Welcome and Pathfinder Award Presentation

9:15 AM: Keynote: From Genes to Treatments: Strategic Considerations for CMT Therapy Development 

  • Mary Reilly, MD, Professor of Neurology, University College London, Department of Neuromuscular Diseases

10:00 AM: Break

10:15 AM: Session: Innovative Trial Designs for CMT

  • Clinical Trial Design for Gene-Based Therapies in Ultra-Rare Diseases: Lessons from Hereditary Spastic Paraplegia
    • Darius Ebrahimi-Fakhari, MD, PhD, Director, Movement Disorders Program; Attending, Department of Neurology, Boston Children’s Hospital, Assistant Professor of Neurology, Harvard Medical School
  • Preparing for Clinical Trials in CMT2C: Challenges, Insights, and Unanswered Questions
    • Brett McCray, MD, PhD, Assistant Professor of Neurology, University of Michigan
  • Using Wearable Sensors and Technology to Assess Individuals Living with CMT 
    • Katy J. Eichinger, PT, PhD, Associate Professor of Neurology, University of Rochester Medical Center

11:45 AM: Lunch + Poster Viewing

1:00 PM: Session: Advancing CMT Research Projects to Industry

  • From Bench to Bedside: The Development of a Gene Therapy for Spinal Muscular Dystrophy
    • Brian Kaspar, PhD, Chief Scientific Officer, Insmed Incorporated
  • Elevating tRNAGly Levels As A Therapeutic Approach For Glycyl-tRNA Synthetase-Associated Peripheral Neuropathy (CMT2D)
    • Maria Landinez, PhD, Postdoctoral Researcher, Donders Institute for Brain, Cognition, and Behaviour
  • The SARM1 Axon Degeneration Pathway: The Journey from Academic Lab to Small Biotech to Big Pharma
    • Aaron DiAntonio, MD, PhD, Professor of Developmental Biology, WashU Medicine

2:10 PM: Break and Poster Viewing

2:30 PM: Creative Solutions for Advancing and Commercializing Rare Disease Therapeutics

  • A Journey to Cure Michael: A Parent’s Journey to Cure His Son and Eradicate a Rare Disorder
    • Terry Pirovolakis, Founder and CEO, Elpida Therapeutics

3:00 PM: Oral Presentations From Selected Abstracts

  • LMT801: A First-in-Class, Orally Available Disease-Modifying Therapy That Restores Nerve Function and Remyelination in CMT1A
    • Wheeseong Lee, PhD, Founder and CEO of Lmito Therapeutics, Inc
  • Long-term Exposure to Elevated Sorbitol Levels Leads to Progression of Neuropathic Symptoms in Patients with CMT-SORD
    • Reza Seyedsadjadi, MD, Neurologist, Director, Charcot-Marie-Tooth Center of Excellence, Massachusetts General Hospital, Assistant Professor of Neurology, Harvard Medical School
  • Immune Cell Infiltration and Nanoparticle Targeting in the Connexin32 Knockout Model of CMT1X
    • Harshita Kondeti, PhD Candidate, Loyola University and Edward Hines Jr. VA Hospital
  • A Novel Therapeutic Pipeline for Charcot-Marie-Tooth Disease Type 2A
    • Uri Manor, PhD, Assistant Professor, Department of Cell and Developmental Biology, University of California, San Diego

3:45 PM: Break and Poster Viewing

4:15 PM: Funding CMT Research – Insight Into the Current Research Funding Environment and Ways to Overcome Challenges

  • CMT Research – Embracing Complexity
    • Walter J. Koroshetz, MD, Director, NIH National Institute of Neurological Disorders and Stroke

4:45 PM: ToPIC: Building a CMT Guidance Document for the FDA

  • Shannon Strom, PhD, Senior Vice President of Regulatory Affairs, Aerogen Pharma

5:15 PM: Forum: Obtaining Patient Perspectives to Help Inform Therapeutic Development and Clinical Trial Design

  • Moderator: Meghan Drummond, PhD, Vice President of Research and Drug Development, CMTRF
  • Carl Bjartmar, MD, PhD, Chief Medical Officer, Augustine Therapeutics
  • Mike Schmidt, General Partner, President and Head of 82VS Boston
  • Stephanie Carmody, CMT Advocate
  • Alex Ferrara, CMT Advocate
  • Paula Hamilton, CMT Advocate
  • Eloise Schlafly, CMT Advocate

6:30 PM: Networking Reception + Poster Viewing

Patient Experience

Friday, September 26, 2025: 

5:15 PM: Forum: Obtaining Patient Perspectives to Help Inform Therapeutic Development and Clinical Trial Design

  • Moderator: Meghan Drummond, PhD, Vice President of Research and Drug Development, CMTRF
  • Carl Bjartmar, MD, PhD, Chief Medical Officer, Augustine Therapeutics
  • Mike Schmidt, General Partner, President and Head of 82VS Boston
  • Stephanie Carmody, CMT Advocate
  • Alex Ferrara, CMT Advocate
  • Paula Hamilton, CMT Advocate
  • Eloise Schlafly, CMT Advocate

Saturday, September 27, 2025: 

8:00 AM: Breakfast/Networking With the CMT Community

9:00 AM: Opening Remarks

  • Laura M. MacNeill, MBA, CEO, CMTRF
  • Susan Ruediger, Chief Mission Officer, CMTRF
  • Chelsea Layton, Community Engagement Manager, CMTRF

9:18 AM: Catalyst Award

9:20 AM: Break

9:30 AM: Concurrent Sessions

What is CMT

  • Mary Reilly, MD, Professor of Neurology, University College London, Department of Neuromuscular Diseases

From Discovery to Delivery — the Life Cycle of Drug Development

  • Vera Kiyasova, PhD, Director of Clinical Development, NMD Pharma

Exploring Treatment Pathways: Gene Therapy vs. Other Modalities

  • Meghan Drummond, PhD, Vice President of Research and Drug Development, CMTRF

    10:00 AM: Break

    10:10 AM: Concurrent Sessions

    CMT Type 1 – Mechanisms and Planned Interventions

    • Mary Reilly, MD, Professor of Neurology, University College London, Department of Neuromuscular Diseases

    CMT Type 2 – Mechanisms and Planned Interventions

    • Reza Seyedsadjadi, MD, Neurologist, Director, Charcot-Marie-Tooth Center of Excellence, Massachusetts General Hospital, Assistant Professor of Neurology, Harvard Medical School

    CMT Type 4 – Mechanisms and Planned Interventions

    • Brett McCray, MD, PhD, Assistant Professor of Neurology, University of Michigan

    10:40 AM: Break

    10:50 AM: Concurrent Sessions

    Drugs Under Development for CMT

    • Robert Prior, PhD, Postdoctoral Fellow, VIB-KU Leuven

    Bracing for CMT

    • Ken Cornell, CO, CMT Mobility Rescue

    Unseen Struggles: Navigating Shame, Grief and Uncertainty with CMT

    • Sophia Hilsen, LMHCA, NCC, MAEd, Mental Health Therapist 

    11:20 AM: Break

      11:30 AM: Owning Your Story: How and Why to Share Your Journey With CMT

      • Laura M. MacNeill, MBA, CEO, CMTRF
      • Stephanie Carmody, CMT Advocate
      • Paula Hamilton, CMT Advocate
      • Alex Ferrara, CMT Advocate 
      • Robert Prior, PhD, Postdoctoral Fellow, VIB-KU Leuven
      • Wolfgang Pernice, PhD, Assistant Professor of Neurological Sciences, Columbia University Irving Medical Center

      12:15 PM: Lunch

      1:00 PM: Current and Emerging Clinical Trials for CMT

      • Vera Kiyasova, PhD, Director of Clinical Development, NMD Pharma
      • Evan Bailey, MD, Chief Medical Officer, Applied Therapeutics
      • David Goldstein, PhD, Co-Founder and CEO, Actio Biosciences
      • Carl Bjartmar, MD, PhD, Chief Medical Officer, Augustine Therapeutics

      1:15 PM: Understanding Clinical Trials

      • Jenneen DeFiore, Executive Director, Neuroscience, PPD part of Thermo Fisher Scientific

      1:45 PM: Trials for CMT: One Woman’s Experience

      • Peter deSilva, Board Chair, CMTRF
      • Cara Leath, CMT Advocate

      2:15 PM: When you are not Eligible: Finding Purpose and Progress Beyond Clinical Trials

      • Susan Ruediger, Chief Mission Officer, CMTRF

      2:25 PM: CMT Progress Fueled by You

      • Susan Ruediger, Chief Mission Officer, CMTRF
      • Santo Caivano, CMTRF Board of Directors

      2:35 PM: Break

      2:45 PM: Speaking Up for CMT: Turning Awareness Into Action

      • Chelsea Layton, Community Engagement Manager, CMTRF
      • Jodi Balog, CMTRF Ambassador
      • Ann Fairchild, CMTRF Board of Directors & Ambassador
      • Joe Hogan, CMTRF Ambassador
      • Anushka Noori, CMTRF Ambassador

      3:15 PM: The Power of Participation: Contributing to Research Without Enrolling in a Trial

      • Reza Seyedsadjadi, MD, Neurologist, Director, Charcot-Marie-Tooth Center of Excellence, Massachusetts General Hospital, Assistant Professor of Neurology, Harvard Medical School

      3:45 PM: Unlocking the Code: a Guide to Genetic Testing

      • Stephan Züchner, MD, PhD, Professor of Human Genetics and Neurology and Chief Genomics Officer at the University of Miami Miller School of Medicine

      4:05 PM: Closing Remarks

      4:15 PM: Zero K: Race to End CMT

      • For registered participants only. Convention attendees can use the promo code 2025CMTRF for free registration. For more information, or to register, visit cmtrf.org/bostonzerok.