This page tracks new and upcoming treatment options for Charcot-Marie-Tooth disease (CMT). What’s in development? What’s promising? What’s available soon? Current topics include DTx-1252, gene therapy, PMP22 gene silencing, alpha-1 antitrypsin (AAT), PXT3003, and more. Jump to section: News, Research, Clinical Trials, Projects, Patents, Discussion
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News
- DGIST Professor Minseok Kim’s team develops an electronic medicine technology that restores abnormal protein behavior, the cause of Charcot-Marie-Tooth Disease (CMT) Mar 31, 2023
- RNA therapeutics: the key to treat rare diseases such as Charcot-Marie-Tooth 1A? Dec 22, 2022
- CMT Research Foundation funding boosts Samsara Therapeutics Charcot-Marie-Tooth treatment Oct 22, 2022
- Electroceutical technology could be used to treat Charcot-Marie-Tooth disease Aug 30, 2022
Research
- Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A Nov 25, 2023
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits Oct 19, 2023
- Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice Oct 16, 2023
- Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment Sep 22, 2023
- Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels Aug 30, 2023
- AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C Aug 27, 2023
- Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease Aug 19, 2023
- Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy Aug 1, 2023
- Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene Jul 23, 2023
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Jul 18, 2023
- Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease Jul 4, 2023
- Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1 Jun 19, 2023
- Macrophages influence Schwann cell myelin autophagy after nerve injury and in a model of Charcot-Marie-Tooth disease May 20, 2023
- TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A May 4, 2023
- Charcot-Marie-Tooth neuropathies: current gene therapy advances and the route towards translation Mar 25, 2023
- MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A Mar 16, 2023
- Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice Mar 16, 2023
- Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A Feb 7, 2023
- Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation Feb 3, 2023
- Novel Variants in MPV17, PRX, GJB1 , and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases Jan 30, 2023
- Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease Jan 20, 2023
- Exercise induced myelin protein zero improvement in neuropathic pain rats Jan 11, 2023
- A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies Jan 11, 2023
- Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model Dec 30, 2022
- How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease Dec 26, 2022
- CMT1A current gene therapy approaches and promising biomarkers Dec 22, 2022
- Charcot-Marie-Tooth-1A and sciatic nerve crush rat models: insights from proteomics Nov 25, 2022
- Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis Nov 24, 2022
- Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S Nov 22, 2022
- Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system Nov 18, 2022
- A novel splicing mutation in 5’UTR of GJB1 causes X-linked Charcot-Marie-tooth disease Nov 17, 2022
- Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice Nov 15, 2022
- A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication Nov 9, 2022
- Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H Oct 31, 2022
- Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy Oct 19, 2022
- Young infants with PMP22 duplication can have minor nerve conduction study abnormalities Oct 14, 2022
- Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study Oct 6, 2022
- Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data Oct 5, 2022
- Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study Oct 5, 2022
- Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model Sep 26, 2022
- Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease Sep 25, 2022
- Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry Sep 16, 2022
- A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins Sep 15, 2022
- Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study Sep 15, 2022
- Identity-by-descent analysis of CMTX3 links three families through a common founder Sep 12, 2022
- Heterozygous Seryl-tRNA synthetase 1 variants cause Charcot-Marie-Tooth disease Sep 10, 2022
- Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts Aug 22, 2022
- TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration Aug 19, 2022
- Implantable Electroceutical Approach Improves Myelination by Restoring Membrane Integrity in a Mouse Model of Peripheral Demyelinating Neuropathy Aug 16, 2022
- Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Aug 15, 2022
- CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis Aug 4, 2022
- A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism Jul 31, 2022
- Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy Jul 29, 2022
- Advantages of Adult Mouse Dorsal Root Ganglia Explant Culture in Investigating Myelination in an Inherited Neuropathic Mice Model Jul 24, 2022
- Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy Jul 18, 2022
- C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model Jul 16, 2022
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients Jul 8, 2022
- Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition Jul 3, 2022
- EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study Jun 30, 2022
- The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2 Jun 28, 2022
- Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A Jun 26, 2022
- Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease Jun 16, 2022
- Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy Jun 15, 2022
- Candidate imaging biomarkers for PMP22-related inherited neuropathies Jun 3, 2022
- Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation May 24, 2022
- Disruption of endosomal sorting in Schwann cells leads to defective myelination and endosomal abnormalities observed in Charcot-Marie-Tooth disease May 23, 2022
- A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice May 17, 2022
- The Lipid-Binding Defective Dynamin 2 Mutant in Charcot-Marie-Tooth Disease Impairs Proper Actin Bundling and Actin Organization in Glomerular Podocytes May 10, 2022
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 May 4, 2022
- Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice May 2, 2022
- Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene Apr 12, 2022
- Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies Apr 8, 2022
- The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase Apr 5, 2022
- Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders Mar 31, 2022
- Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor Mar 30, 2022
- Curcumin and Ethanol Effects in Trembler-J Schwann Cell Culture Mar 29, 2022
- The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology Mar 24, 2022
- HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model Mar 23, 2022
- Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation Mar 21, 2022
- Clinical genetics of Charcot–Marie–Tooth disease Mar 18, 2022
- Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population Mar 16, 2022
- DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening Mar 14, 2022
- Multiubiquitination of TRPV4 reduces channel activity independent of surface localization Mar 14, 2022
- Mitochondria-lysosome contact site dynamics and misregulation in neurodegenerative diseases Mar 3, 2022
- Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A Feb 25, 2022
- Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot-Marie-Tooth 1A Feb 21, 2022
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 [preprint] Feb 18, 2022
- Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons Feb 14, 2022
- A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D Feb 11, 2022
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice Feb 10, 2022
- Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation Jan 31, 2022
- Cytokines secreted by mesenchymal stem cells reduce demyelination in an animal model of Charcot-Marie-Tooth disease Jan 28, 2022
- SARM1 Knockout Does Not Rescue Neuromuscular Phenotypes in a Charcot-Marie-Tooth Disease Type 1A Mouse Model Jan 28, 2022
- Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H [preprint] Jan 22, 2022
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases? Jan 15, 2022
- The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation Jan 4, 2022
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models Jan 3, 2022
- HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D) Dec 26, 2021
- A mutation associated with Charcot-Marie-Tooth disease enhances the formation of stable dynamin 2 complexes in cells [preprint] Dec 13, 2021
- A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease Dec 1, 2021
Clinical Trials
- Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A) [completed] May 4, 2022
- Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A Apr 19, 2022
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PREMIER) Mar 23, 2022
- Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A [Suspended] Mar 16, 2022
- A Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A Mar 2, 2022
Projects
- Control of calcium flux and mitochondrial fission by the Charcot Marie Tooth disease protein Mfn2 Dec 31, 2025
- Laminin receptors and signals in Schwann cells Dec 31, 2025
- Exploring the Functions of tRNA Synthetases in the Nucleus and their Relationship to CMT Mar 31, 2025
- The Role of ESCRTs in Regulating Nervous System Function Nov 30, 2024
- Genomic Studies in Charcot-Marie-Tooth Disease Jul 31, 2024
- Accelerate Clinical Trials in CMT (ACTCMT) Study Feb 29, 2024
- Creation of a Schwann Cell Gene Regulatory Network Feb 28, 2024
- Restoring Neurofilaments to Axons in a Mouse Model of CMT2E Feb 28, 2023
- Investigating SIPA1L2 as a Modifier Gene and Therapeutic Target for Charcot-Marie-Tooth Type 1A Jan 8, 2023
- Targeting the PMP22 Protein to Develop Leads Against Charcot-Marie-Tooth Disease Dec 31, 2022
- Actin-mediated regulation of organelle dynamics in Charcot-Marie-Tooth disease Dec 31, 2022
- Investigating SIPA1L2 as a Modifier Gene and Therapeutic Target for Charcot-Marie-Tooth Type 1A Jul 31, 2022
Patents
- Treatment of charcot-marie-tooth axonal type 2d using nt-3 gene therapy Oct 21, 2021
- Pharmaceutical composition for preventing or treating Charcot-Marie-Tooth disease comprising insulin secreted from mesenchymal stem cells or mesenchymal stem cells Sep 29, 2021
- tRNA OVEREXPRESSION AS A THERAPEUTIC APPROACH FOR CHARCOT-MARIE-TOOTH NEUROPATHY ASSOCIATED WITH MUTATIONS IN tRNA SYNTHETASES Aug 12, 2021
