RareTrial

Neuromuscular

Charcot-Marie-Tooth Disease

Also known as CMT, hereditary motor and sensory neuropathy, HMSN, CMT1A

Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting peripheral motor and sensory nerves. Over 100 genes are implicated across CMT types 1 (demyelinating) and 2 (axonal).

ORPHA:166 ↗Gene PMP22Gene MPZGene GJB1Gene MFN2 (and 100+ others)Prevalence 1-5 per 10,000 (Orphanet)Onset All ages (type-dependent)Genetic (multiple inheritance patterns)
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Patient organisations

Charcot-Marie-Tooth AssociationPatient association
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Registry: CMTA Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.

NORD ↗GARD ↗Orphanet ORPHA:166 ↗

About Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting peripheral motor and sensory nerves. Over 100 genes are implicated across CMT types 1 (demyelinating) and 2 (axonal). CMT1A, caused by PMP22 duplication, is the most common form. Symptoms include foot deformity, progressive distal weakness, sensory loss, and reduced reflexes, typically beginning in childhood or adolescence.

Common clinical features

Decreased motor nerve conduction velocityDecreased sensory nerve conduction velocityProximal muscle weaknessDemyelinating peripheral neuropathySkeletal muscle atrophyGait disturbanceHyporeflexiaSensory ataxia

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

8 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 3Sorbitol (Sorbitol component of -mannitol)
Phase 3Baclofen (Baclofen)
Phase 3Naltrexone Hydrochloride (Adepend)
Phase 2Efmitermant Alfa
Phase 2Epalrestat
Phase 2Mexiletine
Phase 1/2Ubidecarenone
Phase 1/2Donaperminogene Seltoplasmid

Before you apply

Things trial teams commonly ask about for Charcot-Marie-Tooth Disease. Not eligibility rules; those are set by each study.

  • CMT type and specific genetic mutation are required - CMT1A and CMT2A have the most active trials
  • Nerve conduction velocity (NCV) distinguishes demyelinating from axonal forms and is used in eligibility
  • CMTNS (CMT Neuropathy Score) is the standard functional outcome measure used across trials

Related conditions

Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1B

X-linked Charcot-Marie-Tooth disease type 1

X-linked Charcot-Marie-Tooth disease type 2

X-linked Charcot-Marie-Tooth disease type 5

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4J

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).