Skip to content
Charcot–Marie–Tooth Association
Donate

CMT2A in the Lab: A Closer Look at How Treatments Are Tested

CMTA STAR logo alongside Ananda Devices and BrainXell logos, highlighting research partners supporting Charcot-Marie-Tooth disease studies.

CMTA has partnered with two research organizations, ANANDA Devices and BrainXell, to develop a new cell-based testing platform for CMT2A. This assay was developed to be a tool within the CMTA-STAR Preclinical Toolbox to help researchers and biopharmaceutical partners rapidly evaluate potential treatments for CMT2A.

CMT2A is the most common axonal type of CMT, accounting for 30 to 40 percent of all genetically confirmed axonal subtypes. It causes damage to the long nerve fibers, or axons, in motor and sensory neurons. These are the longest cells in the body. A single neuron can stretch the entire length of a limb, with most of that length made up of the axon that carries messages from one cell to another, like a lamp cord carrying power from an outlet to a light bulb.

The platform has already been used to evaluate candidate therapies for CMT2A. CMTA, together with the two Alliance Partner companies, presented this collaborative work at the 2025 Society for Neuroscience Meeting in San Diego, held in November.

To study how CMT2A affects these axons and to test potential treatments, BrainXell used stem cells from the CMTA collection at the New York Stem Cell Foundation (NYSCF), donated by individuals from our community living with CMT2A, and converted them into neurons. ANANDA Devices developed a specialized cell culture system that allows the neurons to grow elongated axons, closely matching their structure in the body. This model makes it possible to observe how peripheral nerve axons respond to drug treatments.

Scientific poster from CMTA, ANANDA Devices, and BrainXell presenting an in vitro motor neuron model for CMT2A. The poster includes an abstract, experimental setup, axonal and mitochondrial assessments, microscopy images, charts, and conclusions showing axonal deficits and mitochondrial abnormalities in CMT2A neurons

This work represents another step forward, made possible by the CMT community, based on patient cells donated to NYCSF. That first step has now yielded this new, innovative assay (a laboratory test that lets scientists measure how nerve cells respond to potential treatments) that can create additional treatments for the future. Every breakthrough in CMTA-STAR’s efforts reflects the power of partnership between research and community, as our commitment and support continue to drive progress toward a future without CMT.

Published On:

Simply CMT

  • CMTA-STAR Under the Microscope graphic titled “Reproductive Choices in CMT,” presenting a patient-friendly overview of family planning options for people living with Charcot-Marie-Tooth disease.

    Under the Microscope: Reproductive Choices in CMT

    For people living with Charcot-Marie-Tooth disease, decisions about family planning can raise complex and deeply personal questions. This Under the Microscope installment explores various reproductive options and family planning resources.