Patricia Inácio, PhD,  science writer—

Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests.  The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study” was published in the journal PLOS One. Charcot-Marie-Tooth (CMT) leads to progressive muscle…

Two new mutations in the LRSAM1 gene linked to Charcot-Marie-Tooth (CMT) disease type 2P were found in eight non-related French families, according to researchers. Their findings were published in the study, “LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2,” was published…

Further studies are needed to understand how mutations in genes coding for aminoacyl-tRNA synthetases (aaRSs) may help fuel Charcot-Marie-Tooth (CMT) disease, researchers say. Their study, “Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases,” was published in the Journal of Biological Chemistry. Proteins are…

ACE-083 has been granted orphan drug status by the U.S. Food and Drug Administration (FDA) to treat Charcot-Marie-Tooth (CMT) disease, the therapy’s developer Acceleron Pharma announced. The treatment is being tested in 15 U.S. states in a Phase 2 trial (NCT03124459) that is enrolling participants with …

Independence, mobility, the cost of medical devices and equipment, as well as uncertainty about the future, are the top concerns for patients and families living with neuromuscular diseases, including Charcot-Marie-Tooth (CMT) disease, according to a U.S. survey by the Muscular Dystrophy Association (MDA). Within the past four years, the U.S.

A new mutation in the GARS gene has been associated with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT), a case report shows. The study, “Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease,” was published in the Journal of the Peripheral Nervous System. Up to 37 mutations in the GARS gene have…

Two weeks of treatment with Pharnext’s PXT3003 delayed disease onset, corrected motor deficits, and improved dysregulated molecular pathways in a young rat model of Charcot-Marie-Tooth disease type 1A (CMT1A), a preclinical study shows. This finding coincides with recent clinical data from the Phase 3 PLEO-CMT trial (NCT02579759) where treatment…

Lack of physical activity among children and adolescents with Charcot-Marie-Tooth (CMT) disease has a long-term negative effect on their physical function. The study with that finding, available in the BioRxiv platform, is titled “Physical activity in children and adolescents with Charcot-Marie-Tooth disease: a cross-sectional case-controlled study.” CMT is characterized…

Aldevron has signed a long-term agreement with Sarepta Therapeutics to provide the gene-transfer vehicles used in Sarepta’s gene therapies that are being tested in ongoing and future clinical trials, as well as for future commercialization. Sarepta Therapeutics is a leading pharmaceutical developing precision genetic therapies for rare diseases, and has begun…

Charcot-Marie-Tooth disease type X (CMTX) may increase the risk of developing multiple sclerosis (MS), the most common central nervous system inflammatory demyelinating disease, according to data from a Greek study. The study, “X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association” was published in the Journal…