Charcot-Marie-Tooth Disease
Recent clinical, regulatory, research and industry developments relating to this disease.
Aminoacyl-tRNA synthetase defects in neurological diseases.
Myelination of the nervous system: mechanisms and functions.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 2 clinical trials expected to report results, the earliest in Q4 2026.
- Q4 2026A Phase 1b/2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
- Q1 2028A First-in-human, Multi-center, Randomized, Participant- and Investigator-blinded, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With Charcot-Marie Tooth Type 1A (CMT1A).
Clinical MilestonesViewHide
- 2026-05-26A Phase 1b/2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)Results expected Q4 2026
- 2026-04-21A First-in-human, Multi-center, Randomized, Participant- and Investigator-blinded, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With Charcot-Marie Tooth Type 1A (CMT1A).Results expected Q1 2028
- 2029-01-01ClinicalA Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Long-Term Clinical Benefit of Govorestat in Patients With Charcot-Marie-Tooth-Sorbitol Dehydrogenase Deficiency (CMT-SORD)Withdrawn
- 2026-05-26ClinicalA Phase 1b/2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)Results expected Q4 2026
- 2026-04-21ClinicalA First-in-human, Multi-center, Randomized, Participant- and Investigator-blinded, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With Charcot-Marie Tooth Type 1A (CMT1A).Results expected Q1 2028
- 2025-11-04ClinicalA Phase 2a, Randomised, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of NMD670 Over 21 Days in Ambulatory Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth DiseaseCompleted
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes3
- Amino Acyl-tRNA Synthetases1
- Charcot-Marie-Tooth Disease1
- Mutation1
Leading journals2
- Annual review of cell and developmental biology1
- IUBMB life1
Leading researchers4
- Ling J1
- Nave KA1
- Werner HB1
- Zhang H1
Affiliations (unnormalised)2
- Max Planck Institute of Experimental Medicine1
- The University of Maryland1
Reference
Authoritative identity, definition & identifiers.
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.