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Living With CMT2CHome

Living With CMT2C: Everything about CMT2C, gathered in one place

Everything I wanted to know about CMT2C was scattered across research papers, foundation pages and forums. Here it is in one place, in plain language and backed by sources, for people with CMT2C and the people who support them.

Also called HMSN 2C or TRPV4 neuropathy, and likely the same disease as SPSMA and CDSMA [6]. Every name, explained

Written by Klaudia Warner, who lives with CMT2C, with help from Stephanie Carmody, a CMT2C patient advocate who has led a patient community on Facebook for over ten years

What you’ll find here

New to CMT2C? Start with What is CMT2C? Ready to start managing it? Try Your 90-day action plan.

Three things to know first

CMT2C is a progressive disease: it weakens the hands, feet and shoulders, and that weakness usually worsens slowly over time. Unlike most forms of CMT, it often reaches the voice box and the breathing muscles, and in severe forms respiratory complications can shorten life [6]. In mild forms lifespan is normal [6].

  1. There is no approved treatment that changes the course of CMT2C yet. None exists for any form of CMT so far [5], so care focuses on managing symptoms with a team of specialists [6].

  2. There is real momentum. A natural history study, which follows people with TRPV4 changes over time, is under way at Johns Hopkins [101], and more drug candidates are in clinical trials for CMT than ever before [99].

  3. Patients move research forward. By actively participating in research and clinical trials and supporting one another, we can help drive the progress needed to halt this disease in its tracks.

Clinical trials to watch

Research for CMT2C, and for CMT as a whole, is moving. Trials that are not only for CMT2C matter too: treatments aimed at nerve problems shared by many types of CMT could help all of us.

See all trials and research
  • You can join now

    Natural history studies

    Johns Hopkins runs a study of people with TRPV4 changes, for now only in the United States and Canada [101]. INC 6601, the Inherited Neuropathy Consortium’s natural history study, is open to every type of CMT [52]. Data from studies like these help design fairer, faster trials [91].

  • Built for CMT2C

    ABS-0871

    An oral TRPV4 blocker. A trial in people with CMT2C was listed as planned and not yet recruiting in October 2026 [34].

    Why it means so much to us
  • For many types of CMT

    The wider pipeline

    More drug candidates are in clinical trials for CMT than ever before [99]. One example, ignaseclant (NMD670), was tested in adults with CMT1 or CMT2 [45].

Your next step

Three places to start if you want to take part in research.

  1. Confirm your genetic diagnosis

    Trials recruit by subtype, so genetic confirmation is essential [53].

  2. Join a study and a registry

    The Johns Hopkins TRPV4 study, for now in the US and Canada [101], and INC’s natural history study [52] collect the data TRPV4 research relies on. GRIN, a registry run by the Hereditary Neuropathy Foundation, is also free and open worldwide [55]. CMTA Patients as Partners in Research gives early notice of clinical trials [54]. Where to sign up.

  3. Ask about studies

    Ask your neurologist or a CMT Center of Excellence about studies you may qualify for [53].

See all the ways to take part

I look forward to connecting with researchers, clinicians, and fellow families.

Please feel free to reach out if you'd like to discuss TRPV4 biology, AI in research, or clinical trial access.

Contact

How this site is sourced

Facts about CMT2C carry a small numbered citation to a published source. Select a number to see the source. My own experiences, and a few first-hand updates from me and from Stephanie Carmody, are shared as ours, not as evidence. Where the evidence is weak, missing or disputed, I say so.

This site is a patient-written, fully sourced guide to Charcot-Marie-Tooth disease type 2C (CMT2C), the form of CMT caused by changes in the TRPV4 gene. It was last updated in October 2026.

Urgent symptoms. If you have trouble breathing, noisy breathing or a sudden change in your voice or swallowing, seek urgent medical care.

This site is patient-authored education. It is not medical advice. Please read the medical disclaimer.