Disease · MONDO_0007309

Charcot-Marie-Tooth disease type 1A

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Charcot-Marie-Tooth disease type 1A. Diseases, record MONDO_0007309. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0007309

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 type 1A; Open Targets
Open Targets ID: MONDO_0007309; Open Targets
Other names: CMT1A, Charcot-Marie-Tooth syndrome type 1A, HMSN1A, hereditary motor and sensory neuropathy 1A, microduplication 17p12; Open Targets
Disease Ontology: DOID:0110148; Disease Ontology
NCI Thesaurus: C75468; NCI Thesaurus
Orphanet: ORPHA:101081; Orphanet
Highest stage of its drugs: Phase 3, for 3 of its 6 drugs, from ClinicalTrials.gov; Open Targets

Drugs6

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
BACLOFEN	CHEMBL701	Small molecule	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
SORBITOL	CHEMBL1682	Small molecule	Phase 3	ClinicalTrials.gov	4	4	4	Drugs and targets
NALTREXONE HYDROCHLORIDE	CHEMBL1201149	Small molecule	Phase 3	ClinicalTrials.gov	3	3	3	Drugs and targets
ASCORBIC ACID	CHEMBL196	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
NALTREXONE	CHEMBL19019	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets
ULIPRISTAL ACETATE	CHEMBL260538	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets6

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
OPRD1	Opioid receptors; mu/kappa/delta	2	Opioid receptors; mu/kappa/delta antagonist	Phase 3	https://conductscience.org/library/genes/4985	Drugs and targets
OPRK1	Opioid receptors; mu/kappa/delta	2	Opioid receptors; mu/kappa/delta antagonist	Phase 3	https://conductscience.org/library/genes/4986	Drugs and targets
OPRM1	Opioid receptors; mu/kappa/delta	2	Opioid receptors; mu/kappa/delta antagonist	Phase 3	https://conductscience.org/library/genes/4988	Drugs and targets
GABBR1	GABA-B receptor	1	GABA-B receptor agonist	Phase 3	https://conductscience.org/library/genes/2550	Drugs and targets
GABBR2	GABA-B receptor	1	GABA-B receptor agonist	Phase 3	https://conductscience.org/library/genes/9568	Drugs and targets
PGR	Progesterone receptor	1	Progesterone receptor modulator	Phase 2	https://conductscience.org/library/genes/5241	Drugs and targets

Trials7

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
NCT02579759	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)	Phase 3	323	2020-02-27	Charcot-Marie-Tooth Disease Type 1A	BACLOFEN, NALTREXONE HYDROCHLORIDE, SORBITOL	Its record names the disease	ClinicalTrials.gov
NCT01401257	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A	Phase 2	80	2017-02-16	Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Liability to Pressure Palsies, Genetic Disorders	BACLOFEN, NALTREXONE, SORBITOL	Its record names the disease	ClinicalTrials.gov
NCT04762758	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients	Phase 3	350		Charcot-Marie-Tooth Disease	BACLOFEN, NALTREXONE HYDROCHLORIDE, SORBITOL	Its record names the disease	ClinicalTrials.gov
NCT03023540	Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A	Phase 3	187		Charcot-Marie-Tooth Disease, Type IA	BACLOFEN, NALTREXONE HYDROCHLORIDE, SORBITOL	Its record names the disease	ClinicalTrials.gov
NCT00484510	High Dose Ascorbic Acid Treatment of CMT1A	Phase 2/3	110		Charcot-Marie-Tooth Disease, Type Ia	ASCORBIC ACID	Its record names the disease	ClinicalTrials.gov
NCT02600286	Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A	Phase 2	23		CMT1A	ULIPRISTAL ACETATE	Its record names the disease	ClinicalTrials.gov
NCT00271635	Ascorbic Acid Treatment in CMT1A Trial (AATIC)	Phase 2	13		Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathies	ASCORBIC ACID	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

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.

None in this release.

Papers from its trials7

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

PMID	Listed as	Trials listing it	Source
30650121	RESULT	1	PubMed
27387831	RESULT	1	PubMed
26070802	RESULT	1	PubMed
25519680	RESULT	2	PubMed
25491744	RESULT	1	PubMed
23797954	DERIVED	1	PubMed
19909499	DERIVED	1	PubMed

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_0007309

GET https://conductscience.org/api/diseases/v1/MONDO_0007309/drugs

API reference For AI assistants