Charcot-Marie-Tooth disease drug development is at a pivotal moment. More active drug trials are underway than ever before, and a growing community of researchers, companies, investors, and patients is working toward treatments. The Global CMT Research Convention exists to bring all of them into one room.
This September 24 to 26 in Cambridge, MA, the convention returns with three full days of programming spanning cutting-edge science, industry perspectives, and patient-centered resources. Thursday and Friday are meetings designed for scientists, clinicians, and investors; patients are welcome; Saturday is designed for patients, and scientists are welcome.
Session names below are locked in. While talk titles and speakers are still being finalized, here is what you can count on for each session, and who has already confirmed.
Register for the convention now.
Thursday, September 24: Researcher Day
Emerging Researcher Forum (invite-only, apply here)
A closed-door session where early-career investigators present their work directly to the CMT research community’s senior scientists, a rare shot at feedback that can shape a whole research program.
Welcome and Opening Remarks
Humanized CMT1A Model with Myelination Defect for Therapy Development
New pre-clinical models that faithfully reproduce the myelination defects seen in CMT1A patients are what let candidate therapies get tested before they ever reach a clinical trial. This talk introduces one built specifically to close that gap.
Confirmed speaker: Dr. Gabsang Lee (Johns Hopkins University)
Overview of CMT Biology
This session surveys the disease mechanisms behind demyelinating CMT, from how new variants get classified to the biology of the blood-nerve barrier, the groundwork that shapes every therapeutic strategy that follows.
Confirmed speakers: Dr. Charles Abrams (University of Illinois Chicago), Dr. Robert Piper (University of Iowa), Dr. Alison Lloyd (University College London)
Moderator: Dr. Bruce Carter (Vanderbilt University)
Genetics and Genomic Technologies
Genomic tools are changing how new CMT genes get discovered and how genetic medicine reaches patients, covering everything from next-generation sequencing strategies to programmable gene editing.
Confirmed speakers: Dr. Marina Kennerson (ANZAC Research Institute / University of Sydney), Dr. Heidi Rehm (Broad Institute of MIT and Harvard), Dr. Christiano Alves (University of Pittsburgh)
Moderator: Dr. Marina Kennerson (ANZAC Research Institute / University of Sydney)
Oral Presentations from 2025 ERA Recipients
Three CMTRF-funded early-career researchers share new data on gene delivery, biomarker discovery, and patient-derived disease modeling, work still in progress and made possible directly by community funding.
Confirmed speakers: Daniel Bouch (Ohio State University), Jonathan Alevy (Johns Hopkins University), Mary Kate McCulloch (Ohio State University)
Insights into the Sensory Component of Peripheral Neuropathies
Hearing loss and related sensory symptoms are underappreciated features of CMT. This session connects nerve biology across related disorders to reveal therapeutic targets that a single-disease view would miss.
Confirmed speakers: Dr. Gabriel Corfas (University of Michigan), Dr. Judith Kempfle (Massachusetts Eye and Ear / Harvard Medical School)
Moderator: Dr. Meghan Drummond (CMT Research Foundation)
Welcome Reception and Poster Viewing
An evening to meet the people behind the day’s science, with posters from CMTRF-funded researchers on display throughout.
Friday, September 25: Researcher and Industry Day
Welcome and Opening Remarks
Keynote: Building the Drug Discovery Engine of the Future with AI-Empowered Nodal Biology
Dr. Anna Greka’s lab has found that many seemingly unrelated genetic diseases, in the kidney, eye, and brain, converge on shared “nodal” pathways, a discovery with direct implications for where the next CMT breakthrough might come from.
Confirmed speaker: Dr. Anna Greka (Broad Institute of MIT and Harvard), founder of the Ladders to Cures (L2C) Scientific Accelerator at the Broad Institute of MIT and Harvard
Realities of Gene Therapy
Gene therapy has moved from concept to clinical reality for several peripheral neuropathies. This session weighs the scientific progress against the practical hurdles still standing between the lab and an approved treatment.
Confirmed speakers: Dr. Rachel Bailey (UT Southwestern Medical Center), Dr. Federico Mingozzi (Nava Therapeutics), Dr. Diana Bharucha-Goebel (Nationwide Children’s Hospital / Ohio State University)
Moderator: Dr. Yulia Grishchuk (Mass General Brigham)
Oral Presentations from Selected Abstracts
Newly submitted research selected for oral presentation; a first look at findings not featured anywhere else on the agenda. Speakers to be announced.
Researchers: Submit your abstracts here by July 24.
Clinical Trial Endpoints
Choosing the right outcome measure can make or break a clinical trial. This session examines what a meaningful clinical endpoint looks like beyond patient-reported outcomes alone.
Confirmed speakers: Dr. Vera Fridman (University of Colorado), Dr. Bopha Chrea (University of Iowa), Dr. Wolfgang Pernice (Columbia University Irving Medical Center)
Moderator: Dr. Brett McCray (University of Michigan)
Acquiring Investment Funds from VCs
A candid panel on what investors look for in a neuromuscular disease program, essential listening for anyone bringing a CMT therapeutic toward funding.
Speakers: Representatives from Thermo Fischer Scientific, Third Rock Ventures, Biogen
Confirmed moderator: Jenneen DeFiore (PPD, part of Thermo Fisher Scientific)
Late Breaking Abstracts
The newest data of the convention selected close to the meeting itself. Speakers to be announced.
Forum: Obtaining Patient Perspectives to Help Inform Therapeutic Development and Clinical Trial Design
Researchers designing the next generation of CMT trials hear directly from the patients those trials are meant to serve, a conversation that increasingly shapes how endpoints and eligibility criteria get written.
Confirmed moderator: Susan Ruediger (CMT Research Foundation)
Networking Reception and Poster Viewing
Saturday, September 26: Patient Experience Day
Welcome and Opening Remarks
Confirmed emcee: Laura MacNeill (CMT Research Foundation)
Clinical Trials
What actually happens during a clinical trial, from screening to visits to a typical day, told through a company update on where current CMT treatments stand, a firsthand account from someone who has been through a trial, a walkthrough of how to sign up for future trial notifications, and a look at how the FDA evaluates CMT therapies.
Confirmed speakers: Peggy Allred, Dan Brennan (NMD Pharma), Dr. David Goldstein (Actio Biosciences), Dr. Keith Gottlieb (Elpida Therapeutics), with representatives from ReviR and EnCell; Jenneen DeFiore (PPD, part of Thermo Fisher Scientific); a participant in a Novartis clinical trial; Laura MacNeill (CMT Research Foundation); Shannon Strom (Aerogen Pharma).
The Rest of the Pipeline
A tour of the full range of scientific approaches being pursued for CMT, from small molecules to gene therapy to AI-accelerated drug discovery, and how community funding drives each one forward.
Confirmed speaker: Dr. Meghan Drummond (CMT Research Foundation)
Patient Panel: What Excites Us as Patients
Patients living with CMT share what is giving them hope right now, a candid, community-driven look at the progress that matters most to the people it is meant to help.
Speakers: To be announced
Community Spotlight
How progress for CMT connects to the broader rare disease community, followed by recognition for a researcher whose work has meaningfully advanced the field this year, and a look at practical ways for patients and families to plug into the CMT community right now, from ambassador programs to federal research initiatives.
Confirmed speakers: Susan Ruediger (CMT Research Foundation), Chelsea Layton, Anna Combes (CMT Research Foundation)
Patient-Focused Topics
Four short talks on how AI is improving outcome measurement, the connection between hearing and CMT, how to weigh genetic testing, and what patient-derived disease models mean for future treatments.
Confirmed speakers: Dr. Wolfgang Pernice (Columbia University Irving Medical Center), Dr. Ronna Hertzano (University of Maryland / National Institutes of Health), Dr. Marina Kennerson (ANZAC Research Institute / University of Sydney)
The Reason to Visit an INC Site
Why receiving care at an Inherited Neuropathy Consortium site can make a real difference in diagnosis and treatment.
Confirmed speaker: Dr. Vera Fridman (University of Colorado)
Hands-On Stations
Try DANCER motion tracking or get a hearing assessment, with additional stations in development.
Why You Should Be in the Room
Over three days, you will hear from the scientists mapping the genetic frontiers of the disease, the companies and investors deciding where the next round of funding goes, and the patients whose lived experience should shape every trial design and treatment decision that follows.
Dr. Greka’s keynote alone makes the case: the next CMT breakthrough may not come from a CMT lab at all, but from a nodal discovery in a completely different disease, and vice versa. That is the kind of connection that only happens when the entire community, researchers, industry, and patients, is in the same room at the same time.
Whether you are weighing which sessions to prioritize as a researcher or deciding if the trip is worth it as a patient or caregiver, this convention is built around a simple idea: progress on CMT moves faster when the people working on it stop working in silos.
