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Charcot-Marie-Tooth disease axonal type 2S

MONDO:0014511

Any 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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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Peripheral nervous system disorder (114) Neuromuscular disease (106) Peripheral neuropathy (91) Charcot-Marie-Tooth disease (48) Human disease (14) Hereditary neurological disease (6) Hereditary peripheral neuropathy (6)
Trials to join now! 7 Not yet finished but already full! 2 Completed 1 Terminated 1
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  • Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.

    Knowledge-focused Terminated

    This study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…

    Sponsor: Zarife Sahenk • Aim: Knowledge-focused

    Last updated Jul 31, 2026 00:00 UTC

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