This page keeps track of new/upcoming treatment options for Charcot-Marie-Tooth disease (CMT). What’s in development? What’s promising? What’s available soon? Find out below… Current topics include PXT3003, ACE-083, SARM1 inhibitors, HDAC6 inhibitors, PMP22, gene therapy, NT-3, IFB-088, and more. Subscribe to Email Updates
Last updated:
January 7, 2020
News
- Targeting Axon Degeneration – a treatment for all types of CMT? Jan 7, 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
- CMT Research Foundation: CMT1B project is funded & ready for take off! Aug 2, 2019
- Neurogene Initiates Natural History Study of Charcot-Marie Tooth Disease (CMT4J) – Key data now being collected to support endpoint assessment for future gene therapy clinical trial Jul 18, 2019
- Is “Disease-In-A-Dish” in Combination with Animal Models A Faster Track to a Cure for CMT? Jul 1, 2019
- New Grants will Accelerate Clinical Trials in Rare Neurological Disorders such as Charcot-Marie-Tooth Jun 26, 2019
- Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease Jun 14, 2019
- The CMT Research Foundation (CMTRF) Earns Platinum Seal of Transparency from GuideStar Jun 12, 2019
- Study: miR-381 improved myelination and motor nerve conduction velocity in CMT1A mouse model by down-regulating PMP22 expression Jun 1, 2019
- CMT Research Foundation: “CMT finally has the interest of both small biotech and large pharmaceutical companies.” May 31, 2019
- Gene replacement could be a viable treatment for recessive forms of CMT May 24, 2019
- Florian Thomas, M.D., Ph.D., Recognized by the American Academy of Neurology for Charcot-Marie-Tooth Research [PXT3003] May 23, 2019
- Combined Gene Therapy/RNA Strategy May Correct Cellular Changes in CMT2A, Study Suggests May 14, 2019
- Acceleron Pharma Initiates Phase 2 Clinical Trial to Evaluate Long-Term Effects of ACE-083 in Patients with Charcot-Marie Tooth (CMT) Disease May 9, 2019
- Mouse Study Finds Link Between Key Mitochondrial Protein and CMT2A, Making It a Possible Therapeutic Target May 1, 2019
- Protein key to Charcot-Marie-Tooth, other nerve diseases Apr 4, 2019
- Study identifies new approach to repairing damaged peripheral nervous system – “the finding has implications for the future treatment of debilitating nervous system disorders such as Charcot-Marie-Tooth Disease” Apr 2, 2019
- Folic acid: a new lead in treating Charcot-Marie-Tooth disease [video] Mar 25, 2019
- Pharma startups like Pharnext are deploying machine learning to search for new CMT treatments Mar 19, 2019
- Acceleron Receives FDA Orphan Drug Designation for ACE-083 in Charcot-Marie-Tooth Disease Mar 5, 2019
- Gene Therapy for CMT2A: researchers from Dino Ferrari Center in Italy involved in research thanks to support of Mitofusin 2 Project Association Mar 4, 2019
- This Month in CMT Treatment News & Research – February 2019 Mar 1, 2019
- Preliminary results from Part 2 of ACE-083 Phase 2 CMT trial expected by the end of 2019 Feb 27, 2019
- Neurogene nets $68.5M to advance gene therapies for rare neurological diseases including CMT4J Feb 12, 2019
- Neurogene Announces Presentation of Preclinical Data for Gene Therapies to Treat AGU and CMT4J, Two Rare and Devastating Neurodegenerative Disorders Feb 7, 2019
- Pharnext Announces FDA Fast Track Designation for PLEODRUG(TM) PXT3003 for the Treatment of Charcot-Marie-Tooth Disease Type 1A Feb 4, 2019
- Short-term PXT3003 Treatment Delays Disease Onset in Rat Model of CMT1A, Study Shows Jan 24, 2019
- Modulation of NRG1TIII May Help Treat Subtypes of CMT including CMT1B, Study Shows Jan 22, 2019
- CMTRF investigates a gene therapy program for CMT1A Jan 17, 2019
- New Data Published in PLOS ONE Demonstrates Early Therapeutic Effects of Pharnext’s PLEODRUG(TM) PXT3003 in a Transgenic Rat Model of Charcot-Marie-Tooth disease Type 1A Jan 17, 2019
- Sarepta, Aldevron Partnering to Develop Gene Therapies for CMT, Other Rare Diseases Jan 4, 2019
- StarWise Therapeutics & HNF Form A Strategic Alliance to Bring a NextGen HDAC6 Drug Therapy to CMT2A (MFN2) Patients Dec 29, 2018
- Acceleron’s ACE-083 Fast Track’d for neurological disorder Nov 28, 2018
- Acceleron Receives FDA Fast Track Designation for ACE-083 in Charcot-Marie-Tooth Disease Nov 28, 2018
Research
- 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
- 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
- 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
- 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
Clinical Trials
- Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Type 1A (CMT1A) Dec 17, 2019
- 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) Sep 30, 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
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) (PLEO-CMT) Oct 9, 2018
- 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
