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, PMP22, gene therapy, NT-3, HDAC6, and more. Last updated on July 18, 2019. Subscribe to Email Updates
News
- 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 July 18, 2019
- Is “Disease-In-A-Dish” in Combination with Animal Models A Faster Track to a Cure for CMT? July 1, 2019
- New Grants will Accelerate Clinical Trials in Rare Neurological Disorders such as Charcot-Marie-Tooth June 26, 2019
- Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease June 14, 2019
- The CMT Research Foundation (CMTRF) Earns Platinum Seal of Transparency from GuideStar June 12, 2019
- Study: miR-381 improved myelination and motor nerve conduction velocity in CMT1A mouse model by down-regulating PMP22 expression June 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 April 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” April 2, 2019
- Folic acid: a new lead in treating Charcot-Marie-Tooth disease [video] March 25, 2019
- Pharma startups like Pharnext are deploying machine learning to search for new CMT treatments March 19, 2019
- Acceleron Receives FDA Orphan Drug Designation for ACE-083 in Charcot-Marie-Tooth Disease March 5, 2019
- Gene Therapy for CMT2A: researchers from Dino Ferrari Center in Italy involved in research thanks to support of Mitofusin 2 Project Association March 4, 2019
- This Month in CMT Treatment News & Research – February 2019 March 1, 2019
- Preliminary results from Part 2 of ACE-083 Phase 2 CMT trial expected by the end of 2019 February 27, 2019
- Neurogene nets $68.5M to advance gene therapies for rare neurological diseases including CMT4J February 12, 2019
- Neurogene Announces Presentation of Preclinical Data for Gene Therapies to Treat AGU and CMT4J, Two Rare and Devastating Neurodegenerative Disorders February 7, 2019
- Pharnext Announces FDA Fast Track Designation for PLEODRUG(TM) PXT3003 for the Treatment of Charcot-Marie-Tooth Disease Type 1A February 4, 2019
- Short-term PXT3003 Treatment Delays Disease Onset in Rat Model of CMT1A, Study Shows January 24, 2019
- Modulation of NRG1TIII May Help Treat Subtypes of CMT including CMT1B, Study Shows January 22, 2019
- CMTRF investigates a gene therapy program for CMT1A January 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 January 17, 2019
- Sarepta, Aldevron Partnering to Develop Gene Therapies for CMT, Other Rare Diseases January 4, 2019
- StarWise Therapeutics & HNF Form A Strategic Alliance to Bring a NextGen HDAC6 Drug Therapy to CMT2A (MFN2) Patients December 29, 2018
- Acceleron’s ACE-083 Fast Track’d for neurological disorder November 28, 2018
- Acceleron Receives FDA Fast Track Designation for ACE-083 in Charcot-Marie-Tooth Disease November 28, 2018
- Pharnext Announces Positive Topline Results from Pivotal Phase 3 Trial of PXT3003 for Treatment of Charcot-Marie-Tooth Type 1A Disease October 16, 2018
- Sarepta Announces Agreement with Nationwide Children’s Hospital for Rights to its Gene Therapy Program to Treat Charcot-Marie-Tooth (CMT) Neuropathy, Globally the Most Common Inherited Neuromuscular Disorder October 5, 2018
- Implanting Stem-derived Schwann Cells Improves Motor Activity, Nerve Regeneration in CMT1A September 27, 2018
- HNF conducting meeting for FDA to advance therapies for Charcot-Marie-Tooth September 6, 2018
- Possible treatment for Charcot-Marie-Tooth disease discovered August 9, 2018
- Regenacy Pharmaceuticals Announces Collaboration with the Charcot-Marie-Tooth Association (CMTA) to Advance Ricolinostat for the Treatment of Hereditary Neuropathy August 2, 2018
- Acceleron Announces Preliminary Results from ACE-083 Phase 2 Trial in Patients with Charcot-Marie-Tooth Disease July 23, 2018
- Acceleron Receives FDA Orphan Drug Designation for ACE-083 in Facioscapulohumeral Muscular Dystrophy July 12, 2018
- European Medicines Agency Agrees with Pharnext’s Pediatric Investigation Plan for PXT3003 in Charcot-Marie-Tooth disease type 1A (CMT1A) July 10, 2018
- Pharnext to Announce Top-Line Results from the Pivotal Phase 3 Trial of PXT3003 for the Treatment of Charcot-Marie-Tooth Type 1A Disease by October 2018 June 21, 2018
- Pharnext Announces PXT3003 was Granted Priority Review by the China Food and Drug Administration June 14, 2018
- FLX-787 Phase 2 Clinical Programs in ALS & CMT to Close June 13, 2018
- InFlectis BioScience IFB-088 enters phase 1 Clinical Trial May 24, 2018
Research
- Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1 July 1, 2019
- Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2 June 20, 2019
- Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association June 20, 2019
- Peripheral myelin protein 22 (PMP22) modulates store operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology June 18, 2019
- Charcot-Marie-Tooth 2F (Hsp27 mutations): A review June 15, 2019
- Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease June 14, 2019
- In vivo real-time dynamics of ATP and ROS production in axonal mitochondria show decoupling in mouse models of CMT2A June 11, 2019
- Expanding the spectrum of genes responsible for hereditary motor neuropathies [CMT2] June 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
- miR-381 Attenuates Peripheral Neuropathic Phenotype Caused by Overexpression of PMP22 April 30, 2019
- Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms April 25, 2019
- Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice April 17, 2019
- Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy April 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 April 9, 2019
- RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A April 9, 2019
- GDAP1-Related Charcot-Marie-Tooth Disease: Additional Evidence for the c.692C>T Variant as a Pathogenic Mutation April 9, 2019
- A Novel Myelin Protein Zero variant in Charcot-Marie-Tooth Disease Type 2I April 9, 2019
- Variant of Uncertain Significance in Charcot Marie Tooth Disease: GDAP1 Protein Modeling and Phenotype Correlation April 9, 2019
- Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F April 9, 2019
- A complex containing lysine-acetylated actin inhibits the formin INF2 April 8, 2019
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study April 3, 2019
- NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies April 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 March 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.” March 25, 2019
- Finding a new balance to cure Charcot-Marie-Tooth 2A March 18, 2019
- Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model March 18, 2019
- A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene March 6, 2019
- Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art March 4, 2019
- Junctophilins emerge as novel therapeutic targets in Ca2+ -related diseases including Charcot-Marie-Tooth March 1, 2019
- Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells March 1, 2019
- A network biology approach to unraveling inherited axonopathies including CMT2 February 8, 2019
- Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy February 5, 2019
- Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A January 31, 2019
- Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene January 24, 2019
- The histone deacetylase class I, II inhibitor trichostatin A delays peripheral neurodegeneration January 22, 2019
- Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease January 18, 2019
- Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A) January 16, 2019
- Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations January 8, 2019
- Enhanced axonal neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot–Marie–Tooth type 1B mouse model November 27, 2018
- MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A October 29, 2018
- HDAC6 as a potential therapeutic target for peripheral nerve disorders October 25, 2018
- Charcot-Marie-Tooth type 1A drug therapies: role of adenylyl cyclase activity and G-protein coupled receptors in disease pathomechanism October 10, 2018
- CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid September 24, 2018
- Efficacy of exogenous pyruvate in Trembler(J) mouse model of Charcot-Marie-Tooth neuropathy September 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 August 14, 2018
- Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy August 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 August 1, 2018
- Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development July 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 April 25, 2018
- Intrathecal gene therapy in mouse models expressing CMT1X mutations April 15, 2018
- HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease February 5, 2018
- Soluble Neuregulin1 is strongly up-regulated in the rat model of Charcot-Marie-Tooth 1A disease January 19, 2018
- Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A January 2, 2018
- PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models January 2, 2018
- Peripheral neuropathies: Antisense therapy for Charcot-Marie-Tooth disease? December 22, 2017
Clinical Trials
- 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) July 4, 2019
- Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A June 13, 2019
- Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others [Observational Study] February 20, 2019
- Genetics of Charcot Marie Tooth (CMT) – Modifiers of CMT1A, New Causes of CMT2 (INC-6602) [Observational Study] February 19, 2019
- Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease January 15, 2019
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT) (PLEO-CMT) October 9, 2018
- A Combined SAD and MAD Study to Investigate the Safety, Tolerability and Pharmacokinetic Profile of IFB-088 August 28, 2018
- Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy August 24, 2018
