CMT Blog

Research Watch

Line drawing of a checked-off document linked by a dotted line to a magnifying glass over lines of text.

Research Watch follows new CMT research as it appears: clinical trials registered on ClinicalTrials.gov and papers indexed by Europe PMC. A daily search collects them privately; I read each one and publish a short, plain-English entry only for the ones worth knowing about.

How to read the labels. A trial registry entry tells you a study exists and what it plans, not whether a treatment works. A laboratory or animal study hasn’t been tested in people. An observational study describes people with CMT without testing a treatment. None of this is medical advice; talk to your neurologist before acting on any of it.

Latest entries

Reviewed CMT research updates. Each summary is the editor’s own, and every entry links to its original source and says what kind of evidence it is.

10 updates

  1. Base editing rescues a hereditary motor neuron disease in mouse and patient-derived iPSC organoid models.

    • Journal article
    • Laboratory or animal study

    Researchers tested base editing, a gene-editing method that changes a single DNA letter, on the TFG P285L variant. That variant causes HMSN-P (hereditary motor and sensory neuropathy with proximal dominant involvement), a rare inherited neuropathy that shares clinical and tissue features with ALS. In nerve-and-muscle organoids grown from patients’ stem cells, the editor reduced clumps of the TFG protein and the death of nerve cells. In mice carrying the human variant, delivering it to the spinal cord with an AAV virus prolonged survival and preserved motor neurons.

    Whether HMSN-P counts as CMT depends on who you ask. Orphanet groups it with CMT; the Mondo disease ontology does not; ClinGen’s CMT gene panel lists TFG for review but has not yet rated it. Research Watch describes it as a related neuropathy until that panel does. This is laboratory and animal work only; nothing has been tested in people.

    Source date
    Source updated
    Genes
    TFG
    Subtypes
    HMSN-P
    Approved

  2. Late-onset CMT neuropathy in the NGS era: a 10-year retrospective study.

    • Journal article
    • Human observational study

    A neuromuscular referral centre reviewed ten years of genetic testing (2015 to 2025) in people whose neuropathy began after age 50. Of 642 people tested, 57 (8.9%) had genetically confirmed CMT, involving 20 genes; about a third had the PMP22 duplication that causes CMT1A.

    Late-onset CMT can look like the neuropathies common in older adults. A family history of neuropathy, high-arched feet and slowed nerve conduction in the arm pointed to CMT, and the authors say these should prompt genetic testing. It is a retrospective review from one centre.

    Source date
    Source updated
    Approved

  3. Promoter-Targeted CRISPR Correction of PMP22 Gene Dosage Restores Schwann Cell Homeostasis in Charcot-Marie-Tooth Disease Type 1A.

    • Journal article
    • Laboratory or animal study

    CMT1A is caused by an extra copy of the PMP22 gene. Researchers used CRISPR to make small deletions in one of the gene’s control regions in stem cells from a person with CMT1A. In Schwann-like cells grown from them, the edit reduced the excess PMP22 while keeping a normal baseline level, and the cells looked healthier. The same approach lowered PMP22 in human Schwann cells grown in the lab.

    This was done only in cells; nothing has been tested in animals or people.

    Source date
    Source updated
    Genes
    PMP22
    Subtypes
    CMT1A
    Approved

  4. PXT3003: Lessons for therapeutic development in Charcot-Marie-Tooth disease type 1A and related neuropathies.

    • Journal article
    • Review or commentary

    In a September 2026 review, Joshua Burns traces the history of PXT3003, a combination of baclofen, naltrexone and sorbitol for CMT1A, prompted by a Phase 3 trial in China published in the same journal. He describes the drug’s formulation problems, interrupted development, regulatory uncertainty and disputed efficacy, and argues that judging it depends on how much of the evidence is public.

    This is a review, not new trial data.

    Source date
    Source updated
    Genes
    PMP22
    Subtypes
    CMT1A
    Approved

  5. Cardiovascular Autonomic Neuropathy in Charcot-Marie-Tooth Disease: A Genotype-Stratified Study of PMP22 Duplication and GJB1 Mutation Carriers.

    • Journal article
    • Human observational study

    Researchers tested the heart-rate and blood-pressure reflexes that autonomic nerves control in 36 people with CMT1A, 24 with CMTX1 and 62 people without CMT. About a third of each CMT group showed cardiovascular autonomic neuropathy, compared with one in ten of the comparison group. One reflex test, the Valsalva ratio, was abnormal only in CMT1A.

    The authors suggest considering autonomic testing in people with these types, especially around surgery. The groups were small.

    Source date
    Source updated
    Genes
    PMP22, GJB1
    Subtypes
    CMT1A, CMTX1
    Approved

  6. Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)

    • Trial registry record
    • Trial registry update

    The n-Lorem Foundation, a nonprofit, made nL-GARS1-001, an antisense drug designed for one participant whose CMT2D is caused by a GARS1 deletion. The study runs at UTHealth Houston and enrols by invitation only.

    No results have been posted. The registry expects the study to finish in October 2027.

    Source date
    Source updated
    Registry status
    Enrolling by invitation
    Results posted to ClinicalTrials.gov
    No
    Genes
    GARS1
    Subtypes
    CMT2D
    Approved

  7. Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient

    • Trial registry record
    • Trial registry update

    Vanda Pharmaceuticals is testing VCA-894A, an antisense drug designed for one person’s IGHMBP2 variant, which causes CMT2S. The study has a single participant and is no longer recruiting.

    No results have been posted. The registry expects the study to finish in March 2027.

    Source date
    Source updated
    Registry status
    Active, not recruiting
    Results posted to ClinicalTrials.gov
    No
    Genes
    IGHMBP2
    Subtypes
    CMT2S
    Approved

  8. Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)

    • Trial registry record
    • Trial registry update

    Elpida Therapeutics is testing ELP-02, a gene therapy that delivers a working copy of the FIG4 gene, in CMT4J. It is the first test in people: up to eight children and young adults aged 3 to 20 receive a single dose into the spinal fluid, and everyone gets the treatment.

    Stanford in Palo Alto is recruiting; a University of Iowa site is not yet open. The study started in August 2026 and is expected to run to December 2032.

    Source date
    Source updated
    Registry status
    Recruiting
    Results posted to ClinicalTrials.gov
    No
    Genes
    FIG4
    Subtypes
    CMT4J
    Approved

  9. Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)

    • Trial registry record
    • Trial registry update

    ENCell, a South Korean company, is testing EN001, donor stem cells from umbilical cord tissue (Wharton’s jelly), in about 27 adults with CMT1A. An open-label part finds the dose; a second part compares a low or high dose with placebo, given as two intravenous infusions four weeks apart.

    The study is recruiting at three hospitals in Seoul and Gyeongju, and the registry expects it to finish at the end of 2026. Earlier results from a nine-person study came from a company press release, not a peer-reviewed paper.

    Source date
    Source updated
    Registry status
    Recruiting
    Results posted to ClinicalTrials.gov
    No
    Genes
    PMP22
    Subtypes
    CMT1A
    Approved

  10. A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.

    • Trial registry record
    • Trial registry update

    Novartis is running the first test of EDK060 in people with CMT1A. About 28 adults aged 18 to 60 receive one intravenous dose at one of four levels, or a placebo. The study measures safety and how the body handles the drug, not whether it improves CMT.

    It has been recruiting since September 2025 at four sites in Ottawa, Montreal and Sherbrooke, and the registry expects it to finish in February 2028. Novartis has not said publicly how EDK060 works.

    Source date
    Source updated
    Registry status
    Recruiting
    Results posted to ClinicalTrials.gov
    No
    Genes
    PMP22
    Subtypes
    CMT1A
    Approved

Trial Watch

Every two months, Trial Watch lists the clinical trials testing treatments for CMT: what each one is testing, where it stands and what changed. It includes the trials that were withdrawn or failed, because those are part of the record too.

  • Trial Watch #1: CMT Clinical Trials, October 2026

    The first Trial Watch: the CMT drug trials underway or changed since 2024, from a Novartis CMT1A study recruiting only in Canada to a cancelled govorestat trial, with a plain-English note on each.

For a fuller look at drug trials, with what changed since the last issue, see the research articles, including the bimonthly Trial Watch. How entries are chosen and checked is described in the editorial policy. If you know of a study that’s missing, tell me.