Charcot-Marie-Tooth disease axonal type 2S
MONDO:0014511Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
Also known as: CMT2S, Charcot-Marie-Tooth disease caused by mutation in IGHMBP2, Charcot-Marie-Tooth disease type 2S, IGHMBP2 Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S, Charcot-Marie-Tooth disease, axonal, type 2S, Charcot-Marie-Tooth neuropathy, type 2S
11 clinical trials for this condition and its sub-types.
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One-Patient trial hopes to fix rare nerve disease at its genetic root
Disease control OngoingThis study tests a custom-made drug (VCA-894A) in a single person with a rare genetic nerve disease called CMT2S. The drug is designed to correct a specific genetic error and restore a missing protein. The main goals are to check if the treatment is safe and if it can improve mus…
Phase: PHASE1, PHASE2 • Sponsor: Vanda Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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One-Time gene injection aims to halt rare childhood paralysis
Disease control ENROLLING_BY_INVITATIONThis early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…
Phase: PHASE1, PHASE2 • Sponsor: Megan Waldrop • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC