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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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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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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 Jun 27, 2026 07:53 UTC