By Katherine Forsey, PhD
Each year, I’m reminded that progress in CMT research is built step by step through hard work, persistence, and a deep commitment to people living with the disease. In 2025, that commitment helped move a record number of research projects out of the lab and into clinical trials.
That kind of progress doesn’t come from a single “Eureka!” moment. It comes from years spent moving research deliberately forward – from understanding the disease, to developing, testing, and studying potential treatments in people.
CMTA’s approach to research starts with the end in mind: better treatment options for people with CMT. Our work goes beyond funding grants. We commission research by identifying priority questions, investing in the science, and partnering with research teams from early discovery through to clinical trials in people. This work requires the right tools, infrastructure, data, partnerships, and financial resources to keep promising CMT science moving in the right direction.
A record year for CMT research
In 2025, CMTA funded a targeted portfolio of research projects and activities to advance CMT science. Here’s just some of what we accomplished together in 2025:
- Supported 32 sponsored research projects – worth nearly $9 million – ranging from studies to address the root (genetic) cause of CMT to reprogramming the way nerve cells grow and repair themselves to testing a common amino acid as a potential CMT treatment.
- Identified four new CMT subtypes, bringing the total to 174. Identification of a subtype is an important first step in understanding symptoms and guiding the development of treatments specific to that subtype, providing long-awaited answers for families.
- Approved 10 new research awards to study gene therapy to restore nerve function, hearing loss and balance in CMT, repurposing of an approved drug to see if it helps CMT, and improving drug delivery so treatments can reach nerve cells more effectively, among others.
- Managed 17 preclinical studies with biotech partners, using CMTA’s Preclinical Toolbox to test potential CMT treatments before they are studied in people. The only one of its kind in CMT, our toolbox offers researchers cell and animal models that mimic key features of CMT, and project support to ensure study success.
- Increased our investment in drug testing, clinical trial readiness, and drug delivery to grow and evolve the CMTA research portfolio to achieve the greatest potential benefit for patients.
- Supported a record number of clinical trials led by CMTA-STAR Alliance Partners. Check out this chart for the entire portfolio of treatment development progress CMTA is supporting.
CMTA Inherited Neuropathy Consortium
In late 2024, CMTA stepped in to fund the Inherited Neuropathy Consortium (INC) when National Institutes of Health (NIH) ended support, preserving a decade and a half of foundational research and infrastructure underpinning clinical trial studies in CMT. Without CMTA’s support, millions of dollars in research investment and 15 years of clinical data would have been lost, setting CMT research progress back decades.
It was the right decision. CMTA’s $1.2 million investment in the CMTA-INC advanced four studies and welcomed patients across 26 clinical research institutions in 2025. December brought the 9,500th CMT patient into the CMTA-INC registry – the largest in the world – bringing the total to 12,000 study participants. In addition to their work with patients, CMTA-INC scientists published prolifically in 2025, with more than 26 peer-reviewed articles in academic journals, sharing research findings with the larger scientific community to spark interest, awareness and collaboration.
Patients as Partners in Research: Your Voice, Your Experience
To be successful, CMT research must include input from people living with the disease as part of the process. Patients bring insights that data alone cannot capture, from how symptoms affect daily life to disease outcomes that rely solely on first-person experience such as pain and mental health impacts. CMTA’s Patients in Partners in Research platform was created to incorporate the voice of the CMT patient into research by linking participants to studies, surveys, and focus groups where their input directly informs the work.
In 2025, 8841 people with CMT, representing 63 subtypes, gave their time, opinions, and experience with CMT by being part of our platform. Our community joined 8 new research studies, bringing the number to 39 studies supported since the platform launched in 2018. Our community even helped complete a phase 2 clinical trial six months ahead of schedule!
Built on Your Trust
These successes belong to the CMTA community. Behind each breakthrough, are the thousands of people with CMT and their families who have supported CMTA’s mission through donations, participation in research, and the belief that finding treatments – and ultimately a cure for CMT – is possible. Your trust in us, drives everything we do.
We are deeply grateful you are part of this work. Your generosity, time, and willingness to share your experience with CMT is what allows us to follow the science where it leads us. We will keep pushing forward until we find safe and effective treatments people with CMT want, need, and deserve.
