Disease · MONDO_0015626

Charcot-Marie-Tooth disease

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Charcot-Marie-Tooth disease. Diseases, record MONDO_0015626. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0015626

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Charcot-Marie-Tooth disease; Open Targets
Open Targets ID: MONDO_0015626; Open Targets
Other names: CMT, CMT/HMSN, Charcot Marie Tooth muscular atrophy, Charcot-Marie-Tooth hereditary neuropathy, peroneal muscular atrophy; Open Targets
Disease Ontology: DOID:10595; Disease Ontology
MeSH: D002607; MeSH
NCI Thesaurus: C75467; NCI Thesaurus
Orphanet: ORPHA:166; Orphanet
Highest stage of its drugs: Phase 2, for 3 of its 4 drugs, from ClinicalTrials.gov and TTD; Open Targets

Drugs4

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
EFMITERMANT ALFA	CHEMBL4297867	Protein	Phase 2	ClinicalTrials.gov and TTD	2	1	1	Drugs and targets
EPALRESTAT	CHEMBL56337	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
MEXILETINE	CHEMBL558	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
UBIDECARENONE	CHEMBL454801	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets11

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
AKR1B1	Aldo-keto reductase family 1 member B1	1	Aldose reductase inhibitor	Phase 2	https://conductscience.org/library/genes/231	Drugs and targets
SCN10A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6336	Drugs and targets
SCN11A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/11280	Drugs and targets
SCN1A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6323	Drugs and targets
SCN2A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6326	Drugs and targets
SCN3A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6328	Drugs and targets
SCN4A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6329	Drugs and targets
SCN5A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6331	Drugs and targets
SCN7A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6332	Drugs and targets
SCN8A	Sodium channel alpha subunit	1	Sodium channel alpha subunit blocker	Phase 2	https://conductscience.org/library/genes/6334	Drugs and targets

1 to 10 of 11

See all 11 targets

Trials4

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03943290	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)	Phase 2	62	2021-06-02	Facioscapulohumeral Muscular Dystrophy, Charcot-Marie-Tooth Disease	EFMITERMANT ALFA	Its record names the disease	ClinicalTrials.gov
NCT02561702	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease	Phase 2	4	2018-03-26	Charcot Marie Tooth Disease	MEXILETINE	Its record names the disease	ClinicalTrials.gov
NCT05777226	Research of SORD-CMT Natural History and Epalrestat Treatment	Phase 2	30		Charcot-Marie-Tooth Disease (CMT)	EPALRESTAT	Its record names the disease	ClinicalTrials.gov
NCT00541164	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease	Phase 1/2	23		Charcot Marie Tooth Disease	UBIDECARENONE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials4

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Mexiletine vs Placebo: Number of Participants With a Decrease in Cramp Intensity	1 of 4	2 of 4	8	NCT02561702	Trial comparisons
Mexiletine vs Placebo: Number of Participants With a Decrease in Cramp Duration	2 of 4	0 of 4	8	NCT02561702	Trial comparisons
Mexiletine vs Placebo: deaths from any cause	0 of 4	0 of 4	8	NCT02561702	Trial comparisons
Mexiletine vs Placebo: serious adverse events	0 of 4	0 of 4	8	NCT02561702	Trial comparisons

Papers from its trials0

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

None in this release.

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0015626

GET https://conductscience.org/api/diseases/v1/MONDO_0015626/drugs

API reference For AI assistants