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Charcot-Marie-Tooth disease type 1A (CMT1A) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include common findings: Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, and Hyporeflexia and others; and sometimes findings: Kyphoscoliosis, Gait imbalance, Paresthesia, and Acute demyelinating polyneuropathy and others. 36 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Steppage gait, Hyporeflexia, Peripheral neuropathy
Muscles	9	Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness
Arms and legs	3	Limb muscle weakness, Split hand, Foot dorsiflexor weakness
Bones and joints	2	Kyphoscoliosis, Skeletal muscle atrophy
Ears	1	Hearing loss (hearing impairment)
Heart and blood vessels	1	Hypertrophic nerve changes

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Charcot-Marie-Tooth disease type 1A. An additional 6 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Charcot-Marie-Tooth disease type 1A, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Charcot-Marie-Tooth disease type 1A. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
3-Methyl-1-phenylpyrazolo-1,2-naphthoquinone	3-Methyl-1-phenylpyrazolo-1,2-naphthoquinone	Lmito Therapeutics Inc.	2024	—	Designated
a non-replicating recombinant adeno- associated virus serotype 9 (AAV9) based gene therapy vector containing the DNA of Streptococcus pyogenes Cas9 (SpCas9) protein and single guide RNA (sgRNA) designed to target the TATA-box of the PMP22 P1 promoter	a non-replicating recombinant adeno- associated virus serotype 9 (AAV9) based gene therapy vector containing the DNA of Streptococcus pyogenes Cas9 (SpCas9) protein and single guide RNA (sgRNA) designed to target the TATA-box of the PMP22 P1 promoter	ToolGen, Inc.	2023	—	Designated
AAV-based engineered microRNA targeting conserved regions on the human PMP22 transcript	AAV-based engineered microRNA targeting conserved regions on the human PMP22 transcript	Armatus Bio	2023	—	Designated
Double-stranded small-interfering ribonucleic acid (siRNA) comprised of an antisense strand complementary to a targeted sequence within human PMP22 messenger RNA and a nucleotide sense strand linked to a fatty acid motif	Double-stranded small-interfering ribonucleic acid (siRNA) comprised of an antisense strand complementary to a targeted sequence within human PMP22 messenger RNA and a nucleotide sense strand linked to a fatty acid motif	Novartis Pharmaceuticals Corporation	2023	—	Designated
(RS)-baclofen, naltrexone and D-sorbitol	(RS)-baclofen, naltrexone and D-sorbitol	Pharnext SA	2014	—	Designated
ascorbic acid	ascorbic acid	Murigenetics SAS	2009	—	Designated

Gene therapy approaches for Charcot-Marie-Tooth disease type 1A have been reported in the published literature.

Clinical Trials

12 trials found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

12 clinical trials registered, 8 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE3, 3 PHASE1, 2 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT01193088](https://clinicaltrials.gov/study/NCT01193088)	Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2	—	University of Iowa	RECRUITING
[NCT07140614](https://clinicaltrials.gov/study/NCT07140614)	A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.	PHASE1	Novartis Pharmaceuticals	RECRUITING
[NCT07476365](https://clinicaltrials.gov/study/NCT07476365)	A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)	—	University Medical Center Goettingen	RECRUITING
[NCT07049588](https://clinicaltrials.gov/study/NCT07049588)	Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease	NA	Assistance Publique Hopitaux De Marseille	RECRUITING
[NCT07461896](https://clinicaltrials.gov/study/NCT07461896)	Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP	—	Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta	RECRUITING

59 publications have been identified in PubMed for Charcot-Marie-Tooth disease type 1A. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	17	29%
Laboratory research	14	24%
Disease patterns and progression	8	14%
Clinical study results	6	10%
New treatment approaches	5	8%
Testing and diagnosis research	4

Recent Publications

Kofler M (2026). [PMID: 41219107](https://pubmed.ncbi.nlm.nih.gov/41219107/). *Clin Neurophysiol*. [Other]
Stavrou M (2026). [PMID: 41948127](https://pubmed.ncbi.nlm.nih.gov/41948127/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Lv X (2026). [PMID: 41021222](https://pubmed.ncbi.nlm.nih.gov/41021222/). *JAMA neurology*. [Case Report / Case Series]
Hellings TP (2026). [PMID: 41825735](https://pubmed.ncbi.nlm.nih.gov/41825735/). *J Lipid Res*. [Epidemiology / Natural History]
Kwon HM (2026). [PMID: 41787447](https://pubmed.ncbi.nlm.nih.gov/41787447/). *Orphanet J Rare Dis*. [Clinical Trial Publication]
Weidenkopf TF (2026). [PMID: 42224724](https://pubmed.ncbi.nlm.nih.gov/42224724/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Zou XZ (2026). [PMID: 41639462](https://pubmed.ncbi.nlm.nih.gov/41639462/). *Nature*. [Epidemiology / Natural History]
Yang W (2026). [PMID: 41836211](https://pubmed.ncbi.nlm.nih.gov/41836211/). *J Cent Nerv Syst Dis*. [Case Report / Case Series]
Moss KR (2026). [PMID: 41400104](https://pubmed.ncbi.nlm.nih.gov/41400104/). *Glia*. [Gene Therapy / Novel Therapeutics]
McCoy J (2026). [PMID: 42137589](https://pubmed.ncbi.nlm.nih.gov/42137589/). *Mol Ther Adv*. [Gene Therapy / Novel Therapeutics]

Kisho

Charcot-Marie-Tooth disease type 1A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study.

Charcot-Marie-Tooth disease type 1A

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Quantifying Disease Progression in Patients With Charcot-Marie-Tooth Neuropathy Type 1A Using Quantitative Muscle MRI and Clinical Outcomes.

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot-Marie-Tooth Neuropathy Type 1A: A Proof-of-Concept Study.