Charcot-Marie-Tooth disease type 2J
MONDO:0011903Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
Also known as: CMT2J, Charcot-Marie-Tooth disease, type 2J, CMT 2J, Charcot Marie Tooth disease type 2J, Charcot-Marie-Tooth disease, axonal, type 2J, Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities, Charcot-Marie-Tooth neuropathy, type 2J, autosomal dominant Charcot-Marie-Tooth disease type 2J
9 clinical trials for this condition and its sub-types, 2 tagged with Charcot-Marie-Tooth disease type 2J itself.
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Can tiny cell particles calm a fiery facial nerve?
Symptom relief Recruiting nowResearchers are testing whether exosomes, tiny particles released by donor umbilical cord or placental stem cells, are safe and can help people with trigeminal neuralgia or peripheral neuropathy. The trial enrolls about 20 adults with a confirmed diagnosis. Participants receive t…
Phase 1 • Sponsor: The Foundation for Orthopaedics and Regenerative Medicine • Aim: Symptom relief
Last updated Oct 21, 2026 18:00 UTC
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Global registry aims to map the full course of Charcot-Marie-Tooth disease
Knowledge-focused Recruiting nowResearchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…
Sponsor: Hereditary Neuropathy Foundation • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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New study aims to unravel nerve mysteries in rare diseases
Knowledge-focused Recruiting nowThis study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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4,000 patients to help unlock secrets of nerve disease
Knowledge-focused Recruiting nowThis study is collecting information from 4,000 adults with peripheral neuropathy (nerve damage) to better understand the condition. Researchers will combine standard tests with nerve ultrasound to see if it helps diagnose and track the disease. No new treatments are being tested…
Sponsor: Casa di Cura Dott. Pederzoli • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Liquid nerve biopsy could unlock ALS secrets
Knowledge-focused Recruiting nowThis study is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC