Charcot-Marie-Tooth disease type 2A1
MONDO:0007308Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Also known as: CMT2A, CMT2A1, Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B, Charcot-Marie-Tooth disease type 2A, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease, type 2A1, HMSN IIA1, HMSN2A1
9 clinical trials for this condition and its sub-types, 2 tagged with Charcot-Marie-Tooth disease type 2A1 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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Massive CMT study aims to map disease progression over five years
Knowledge-focused Recruiting nowThis observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is…
Sponsor: Michael Shy • Aim: Knowledge-focused
Last updated Oct 18, 2026 00:00 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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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