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 PXT3003, SIPA1L2, VM202 (Engensis), IFB-088 (Sephin1), HDAC6, aminoacyl-tRNA synthetases (aaRS), SW-100, SARM1 inhibitors, ACE-083, NTF3, gene therapy, PMP22, KU-596, and more. Jump to section: News, Research, Clinical Trials, Projects
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News
- Data from First Phase III Clinical Study of PXT3003 in Charcot-Marie-Tooth Disease Type 1A, the PLEO-CMT Trial, Published in the Orphanet Journal of Rare Diseases Oct 18, 2021
- Researchers at Cyprus Institute of Neurology & Genetics Complete Third Milestone of CMT1A Gene Therapy Project Aug 30, 2021
- Neurogene adds another $115M to the pot for trials for its gene therapies, including its CMT4J program Dec 17, 2020
- More Than Hope: An Action Plan to End CMT Dec 17, 2020
- Vanderbilt-Ancora partnership advances research for Charcot-Marie-Tooth disease Nov 17, 2020
- AcuraStem Scientists Demonstrate Positive Early Results for CMT2A Treatment Nov 10, 2020
- Vanderbilt biochemists reveal the cause of Charcot-Marie-Tooth disease—too much of a good thing Oct 27, 2020
- CMTRF Announces New Research to Study Inflammation as Potential Treatment Target for Charcot-Marie-Tooth Disease Oct 6, 2020
- Pharnext to Host Research and Development Day on October 13, 2020 Sep 29, 2020
- Helixmith starts local trials of VM202 for treating Charcot-Marie-Tooth disease Sep 22, 2020
- DTx Pharma Receives New Funding Grant to Advance RNA-based Therapeutic Programs for Charcot-Marie Tooth (CMT) Sep 22, 2020
- Thicker nerve fibers enable faster reactions in mice Sep 18, 2020
- Pharnext and the Charcot-Marie-Tooth Association Enter Biomarker Research Collaboration Sep 3, 2020
- Conversations with CMT Experts : Demystifying the Drug Development Process [Video] Aug 21, 2020
- Penn researchers identify genetic driver of Charcot-Marie-Tooth disease Aug 3, 2020
- How Breakthroughs in Other Diseases Can Impact CMT: an interview with Shift Pharmaceutical’s CEO Steve O’Connor Jul 30, 2020
- DTx Pharma Achieves Second Milestone in Study to Advance Treatments for CMT1A Jun 26, 2020
- Pharnext Provides Regulatory and Clinical Update on PXT3003 Phase III Study for the Treatment of Charcot-Marie-Tooth Type 1A Jun 10, 2020
- RESEARCH: Pharmacological inhibition of mTORC1 signaling may be viable treatment option for Charcot-Marie-Tooth (CMT) neuropathies Jun 5, 2020
- Sarepta Therapeutics and Dyno Therapeutics Announce Agreement to Develop Next-Generation Gene Therapy Vectors for Muscle Diseases including Charcot-Marie-Tooth May 11, 2020
- Shift Pharmaceuticals partners with CMT Research Foundation to further research CMT1A treatment Apr 18, 2020
- With $30M Investment, Regenacy Plans Phase 2 Trial Testing Ricolinostat for CMT Type 2 Apr 3, 2020
- Pharnext Announces PXT3003 for the Treatment of Charcot-Marie-Tooth Disease Type 1A has Been Granted Promising Innovative Medicine (PIM) Designation by UK Medicines and Healthcare Products Regulatory Agency Mar 18, 2020
- Acceleron Abandons Charcot-Marie-Tooth Program (ACE-083) After Phase II Trial Failure Mar 10, 2020
- CMT Research Foundation Funds Shift Pharmaceuticals to Advance Search for CMT1A Treatment — Shift to Develop and Analyze Novel Series of Drugs Designed to Control Expression of PMP22 Gene Jan 30, 2020
- PXT3003 Improves Clinical Outcomes and Stabilizes Disease Progression in CMT1A Patients, Extension Study Shows Jan 17, 2020
- InFlectis BioScience Announces Successful Completion of Phase 1 Clinical Trial of Oral IFB-088 — Data supports initiation of Phase 2 trial in Charcot-Marie-Tooth disease Jan 7, 2020
- Targeting Axon Degeneration – a treatment for all types of CMT? Jan 7, 2020
- Pharnext Announces Encouraging Data from Open-Label Phase 3 Extension Study of PXT3003 in Charcot-Marie-Tooth Disease Type 1A (CMT1A) Jan 6, 2020
- 2019 – A Year of Closing the Gaps in CMT Drug Development Dec 31, 2019
- CMTRF partners with DTx Pharma to optimize antisense oligonucleotides as a gene therapy for CMT1A Dec 20, 2019
- New research has demonstrated that a class of cytoplasmic enzymes called tRNA synthetases can cause Charcot-Marie-Tooth disease (CMT) by interfering with gene transcription Nov 21, 2019
- Potential treatment path shown for subtype of Charcot-Marie-Tooth disease: A new study could pave the way for developing a viable therapy for CMT patients affected by TyrRS mutations Nov 12, 2019
- For the first time, potential treatment path becomes clear for subtype of Charcot-Marie-Tooth disease Nov 6, 2019
- Emerging Landscape of Modifier Genes in CMT Oct 21, 2019
- VIDEO: How the CMTRF is changing the landscape of the development of treatments for CMT Oct 3, 2019
- ‘Relaxed’ enzymes may be at the root of Charcot-Marie-Tooth disease Oct 1, 2019
- CMTRF/AcuraStem Partnership Yields First Significant Milestone in Search for CMT Cure Sep 18, 2019
- Roadblocks on the Road to Curing Charcot-Marie-Tooth (CMT) Sep 11, 2019
- Passage Bio Licenses Gene Therapy Candidate for CMT2A from Penn, Days after Raising $110M Sep 9, 2019
- CMT1A Research Update Sep 2, 2019
- Pharnext Provides U.S. Regulatory Update on PLEODRUG(TM) PXT3003 in Charcot-Marie-Tooth Disease Type 1A Aug 30, 2019
Research
- A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A Oct 16, 2021
- Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities Oct 4, 2021
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study Jan 8, 2021
- Epigenetic Regulation of CMT: A Lesson from Drosophila Models Jan 6, 2021
- Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients Jan 6, 2021
- Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis Dec 27, 2020
- Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease Dec 19, 2020
- Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: a gain or a loss? Nov 25, 2020
- The expanding genetic landscape of hereditary motor neuropathies Nov 19, 2020
- Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A Oct 19, 2020
- Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease Oct 8, 2020
- Curcumin-cyclodextrin/cellulose Nanocrystals Improve the Phenotype of Charcot-Marie-Tooth-1A Transgenic Rats Through the Reduction of Oxidative Stress Sep 24, 2020
- Phosphorylation of eIF2α promotes Schwann cell differentiation and myelination in CMT1B mice with activated UPR Sep 24, 2020
- Identification of Candidate Genes Associated with Charcot-Marie-Tooth Disease by Network and Pathway Analysis Sep 24, 2020
- Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease Sep 19, 2020
- Microstructural Integrity of Peripheral Nerves in Charcot-Marie-Tooth Disease: An MRI Evaluation Study Sep 11, 2020
- CMTM6 expressed on the adaxonal Schwann cell surface restricts axonal diameters in peripheral nerves Sep 9, 2020
- Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation Sep 8, 2020
- Animal Models of CMT2A: State-of-art and Therapeutic Implications Aug 27, 2020
- Exploiting Sphingo- and Glycerophospholipid Impairment to Select Effective Drugs and Biomarkers for CMT1A Aug 25, 2020
- An altered lipid metabolism characterizes Charcot-Marie-Tooth type 2B peripheral neuropathy Aug 20, 2020
- Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease Aug 19, 2020
- Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective Aug 17, 2020
- A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC (CMT2CC) Aug 11, 2020
- Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels Aug 11, 2020
- Demyelinating Charcot Marie Tooth neuropathy associated with FBLN5 mutations Aug 5, 2020
- Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy Jul 31, 2020
- Developmental demands contribute to early neuromuscular degeneration in CMT2D mice Jul 23, 2020
- Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: The past, the present and the future Jul 18, 2020
- Egr2-guided histone H2B monoubiquitination is required for peripheral nervous system myelination Jul 16, 2020
- Direct Relationship Between Increased Expression and Mistrafficking of the Charcot-Marie-Tooth-Associated Protein PMP22 Jul 9, 2020
- A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review Jul 8, 2020
- Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Is Prolonged Sun Exposure a Provoking Factor? Jun 27, 2020
- Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients Jun 27, 2020
- Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot-Marie-Tooth disease type 1A (CMT1A) rats Jun 26, 2020
- Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains Jun 8, 2020
- PMP22 is critical in cholesterol metabolism, and this mechanism is likely a contributing factor in PMP22-linked hereditary neuropathies such as Charcot-Marie-Tooth (CMT) Jun 8, 2020
- 6-phenylhexanamide Derivatives as Therapeutic Agents for Charcot-Marie-Tooth Disease type 2A (CMT2A) Jun 8, 2020
- Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth Jun 5, 2020
- Patient-derived motor neurons (MNCMTX6): an excellent neuronal system for compound screening approaches to identify drugs for the treatment of X-linked Charcot-Marie-Tooth (CMTX6) Jun 5, 2020
- Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves Apr 30, 2020
- High glucose level as a modifier factor in CMT1A patients: strict blood sugar control may be a useful measure Apr 29, 2020
- Small heat shock proteins in neurodegenerative diseases: how mutations in HSPB1, HSPB3, and HSPB8 are linked to inherited peripheral neuropathies like Charcot-Marie-Tooth (CMT) disease Apr 22, 2020
- Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease Apr 21, 2020
- Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation Apr 21, 2020
- Conduction Block in Charcot-Marie Tooth Neuropathy Type 4J (230) Apr 14, 2020
- Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax Apr 3, 2020
- HDAC6 inhibition [SW-100] promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice Mar 5, 2020
- Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism Mar 3, 2020
- Mutations in Notch ligand Jagged1 (JAG1) cause peripheral nerve disease Charcot-Marie-Tooth disease type 2 (CMT2) Feb 17, 2020
- Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A Feb 12, 2020
- Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes Feb 5, 2020
- Long term AAV2/9-mediated silencing of PMP22 prevents CMT1A disease in rats and validates skin biomarkers as treatment outcome measure [Preprint] Jan 30, 2020
- HDAC6 inhibitors: translating genetic and molecular insights into a therapy for axonal CMT Jan 30, 2020
- Gene Therapies for various forms of Charcot-Marie-Tooth disease (CMT): Available Strategies, Successes to Date, and What to Target Next Jan 27, 2020
- Summary of outcome measures for clinical trials in Charcot-Marie-Tooth disease Dec 30, 2019
- Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease Dec 18, 2019
- Sporadic de novo EGR2 variant identified as cause of severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (CMT3), Dejerine-Sottas Neuropathy (DSN) Dec 18, 2019
- S1P/S1P Receptor Signaling in Neuromuscolar Disorders: potential druggable targets in Charcot-Marie-Tooth disease Dec 17, 2019
- Novel HDAC6 inhibitors increase tubulin acetylation and rescue axonal transport of mitochondria in a model of Charcot-Marie-Tooth Type 2F Dec 17, 2019
- Transmembrane protease serine 5 (TMPRSS5): a novel Schwann cell plasma marker for CMT1A and potential treatment-responsive biomarker with good disease specificity for clinical trials Dec 12, 2019
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease Dec 11, 2019
- Gene therapy approaches targeting Schwann cells for demyelinating neuropathies Nov 29, 2019
- Schwann cell-axon interactions are impaired in the pathogenesis of demyelinating Charcot-Marie-Tooth Disease Nov 24, 2019
- Charcot-Marie-Tooth type 4B2 demyelinating neuropathy: a new canine clinical model that could reveal the biological mechanisms responsible for the disease Nov 21, 2019
- The role of small heat shock proteins (sHsps) in human neurodegenerative disorders such as Charcot-Marie-Tooth disease (CMT): a review Nov 14, 2019
- Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice Nov 12, 2019
- Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy Nov 6, 2019
- Targeting the Programmed Axon Degeneration Pathway as a Potential Therapeutic for Charcot-Marie-Tooth Disease Nov 2, 2019
- Overlapping spectrums: the clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases aids in the search for necessary therapeutic targets Oct 31, 2019
- Gene therapy to promote regeneration in Charcot-Marie-Tooth disease Oct 24, 2019
- Reduction of oxidative stress may constitute a promising therapeutic strategy for Charcot-Marie-Tooth disease type 2K (CMT2K) Oct 23, 2019
- Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges Oct 3, 2019
- Regulating PMP22 Expression as a Dosage Sensitive Neuropathy Gene Oct 3, 2019
- Charcot-Marie-Tooth Disease Type 2E/1F Mutant Neurofilament Proteins Assemble into Neurofilaments Oct 1, 2019
- Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models Sep 26, 2019
- Newly identified genetic modifiers and risk genes may offer alternative targets for pharmacotherapy of Charcot-Marie-Tooth (CMT) Sep 13, 2019
- CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells Sep 9, 2019
- Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP Sep 3, 2019
- Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP Sep 3, 2019
- Nerve size correlates with clinical severity in CMT1A Aug 29, 2019
- MiR-29a and/or PMP22-targeting siRNAs as potential therapeutic agents in Charcot-Marie-Tooth disease Aug 27, 2019
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F Aug 20, 2019
- Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy Aug 14, 2019
- Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X Aug 14, 2019
- PMP22 gene: A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosis Jul 22, 2019
- Charcot-Marie-Tooth: From Molecules to Therapy Jul 12, 2019
- Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1 Jul 1, 2019
- Genetic approaches to the treatment of inherited neuromuscular diseases Jun 22, 2019
- Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2 Jun 20, 2019
- Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association Jun 20, 2019
- Peripheral myelin protein 22 (PMP22) modulates store operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology Jun 18, 2019
- Charcot-Marie-Tooth 2F (Hsp27 mutations): A review Jun 15, 2019
- Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease Jun 14, 2019
- In vivo real-time dynamics of ATP and ROS production in axonal mitochondria show decoupling in mouse models of CMT2A Jun 11, 2019
- Expanding the spectrum of genes responsible for hereditary motor neuropathies [CMT2] Jun 5, 2019
- New Evidence for Gene Replacement in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C May 23, 2019
- A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs) May 9, 2019
- Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations and may be a potential therapeutic agent for Charcot‑Marie‑Tooth disease (CMT) May 2, 2019
- miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22 Apr 30, 2019
- Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms Apr 25, 2019
- Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice Apr 17, 2019
- Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy Apr 15, 2019
- Results of the Dose-Escalation Portion of a Phase 2 Study of ACE-083, a Local Muscle Therapeutic, in Patients with Charcot-Marie-Tooth (CMT) Disease Apr 9, 2019
- RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A Apr 9, 2019
- GDAP1-Related Charcot-Marie-Tooth Disease: Additional Evidence for the c.692C>T Variant as a Pathogenic Mutation Apr 9, 2019
- A Novel Myelin Protein Zero variant in Charcot-Marie-Tooth Disease Type 2I Apr 9, 2019
- Variant of Uncertain Significance in Charcot Marie Tooth Disease: GDAP1 Protein Modeling and Phenotype Correlation Apr 9, 2019
- Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F Apr 9, 2019
- A complex containing lysine-acetylated actin inhibits the formin INF2 Apr 8, 2019
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study Apr 3, 2019
- NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies Apr 1, 2019
- Strategies to increase folic acid (FA) metabolism may ameliorate diseases, such as Charcot-Marie-Tooth disease type 2 (CMT2A), that are associated with loss of mitochondrial function Mar 25, 2019
- Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy – “This study provides a proof of principle for viral gene replacement therapy targeted to Schwann cells to treat Charcot-Marie-Tooth disease type 4C and potentially other similar demyelinating inherited neuropathies.” Mar 25, 2019
- Finding a new balance to cure Charcot-Marie-Tooth 2A Mar 18, 2019
- Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model Mar 18, 2019
- A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene Mar 6, 2019
- Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art Mar 4, 2019
- Junctophilins emerge as novel therapeutic targets in Ca2+ -related diseases including Charcot-Marie-Tooth Mar 1, 2019
- Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells Mar 1, 2019
- A network biology approach to unraveling inherited axonopathies including CMT2 Feb 8, 2019
- Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy Feb 5, 2019
- Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A Jan 31, 2019
- Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene Jan 24, 2019
- The histone deacetylase class I, II inhibitor trichostatin A delays peripheral neurodegeneration Jan 22, 2019
- Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease Jan 18, 2019
- Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A) Jan 16, 2019
- Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations Jan 8, 2019
- Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot–Marie–Tooth type 1B mouse model Nov 27, 2018
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A Oct 29, 2018
- HDAC6 as a potential therapeutic target for peripheral nerve disorders Oct 25, 2018
- Charcot-Marie-Tooth type 1A drug therapies: role of adenylyl cyclase activity and G-protein coupled receptors in disease pathomechanism Oct 10, 2018
- CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid Sep 24, 2018
- Efficacy of exogenous pyruvate in Trembler(J) mouse model of Charcot-Marie-Tooth neuropathy Sep 21, 2018
- Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A Aug 14, 2018
- Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy Aug 2, 2018
- Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2 Aug 1, 2018
- Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development Jul 17, 2018
- Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot–Marie–Tooth 1B Mouse Model May 2, 2018
- AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model Apr 25, 2018
- Intrathecal gene therapy in mouse models expressing CMT1X mutations Apr 15, 2018
- HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease Feb 5, 2018
- Soluble Neuregulin1 is strongly up-regulated in the rat model of Charcot-Marie-Tooth 1A disease Jan 19, 2018
- Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A Jan 2, 2018
- PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models Jan 2, 2018
Clinical Trials
- Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Type 1A (CMT1A) Nov 19, 2020
- Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument Jul 13, 2020
- Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Charcot-Marie Tooth (CMT) Disease Type 1 (CMT1) and Type X (CMTX) [Terminated] Mar 13, 2020
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) (PLEO-CMT) [Completed] Feb 27, 2020
- The Impact of Charcot-Marie-Tooth Disease in the Real World [Observational Study] Dec 24, 2019
- Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT) [Observational Study] Sep 27, 2019
- A Registered Cohort Study on Charcot-Marie-Tooth Disease in China [Observational Study] Sep 23, 2019
- Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A (PLEO-CMT-FU) Sep 19, 2019
- Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others [Observational Study] Feb 20, 2019
- Genetics of Charcot Marie Tooth (CMT) – Modifiers of CMT1A, New Causes of CMT2 (INC-6602) [Observational Study] Feb 19, 2019
- Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Jan 15, 2019
- A Combined SAD and MAD Study to Investigate the Safety, Tolerability and Pharmacokinetic Profile of IFB-088 Aug 28, 2018
- Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy Aug 24, 2018
