Several novel mutations in aminoacyl-tRNA synthetase (ARS) genes were linked with Charcot-Marie-Tooth disease (CMT) in a recent study out of Korea. “This study will be useful for performing exact molecular diagnoses and providing reference data for other population studies,” its researchers wrote. The study, “Variants of…
Armatus Bio will now further develop a potential gene therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), aiming to conduct clinical trials. According to a press release from the CMT Research Foundation, which has been funding this therapy’s preclinical development, Armatus is in the process of licensing the gene therapy,…
A Japanese man was found to have a new mutation in the PRPS1 gene, which caused Charcot-Marie-Tooth disease type X- 5 (CMTX5), according to a recent case study. The patient showed the classic symptoms of CMTX5, such as deafness and damage to multiple peripheral nerves — those outside the…
Two research projects focused on developing gene-editing therapies for Charcot-Marie-Tooth disease type 2 (CMT2) — both launched with seed monies from the Charcot-Marie-Tooth Association-Strategy to Accelerate Research (CMTA-STAR) program — have now been awarded additional funding from the National Institutes of Health (NIH). According to a CMTA press…
Nerve damage caused by mutations in the HINT1 gene are as common among Greek patients with Charcot-Marie-Tooth disease (CMT) or a related condition as they are among patients in more central and eastern European countries, a study found. Specifically, four reported cases of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM),…
A gene therapy delivering instructions to produce the neurotrophin-3 (NT-3) protein to muscle cells improved muscle function and eased defects in nerve and muscle structure of a mouse model of severe Charcot-Marie-Tooth disease type 2D (CMT2D), a study found. These results support an NT-3 gene therapy as a potential treatment…
Children with Charcot-Marie-Tooth (CMT) disease are more likely to be on either extreme of the body mass index, either underweight or obese, than their healthy peers, a large study found. Findings also showed that among children with CMT, being underweight or obese was associated with greater disability. The study,…
Clinical indices measuring disease severity and the need for walking assistance may help patients with Charcot-Marie-Tooth (CMT) disease in deciding on the type of orthosis required to provide added support for weakened muscles, a study found. Both the Ambulation Index (AI) and the Charcot-Marie-Tooth Neuropathy Score (CMTNS) “can be effective…
A boy who experienced oculomotor nerve palsy, a rare condition affecting a nerve that controls eye movements, was later diagnosed with Charcot-Marie-Tooth disease type 1 (CMT1), a case study reports. Although the two conditions may have been coincidental, researchers noted the underlying nerve damage due to CMT may have…
The CMT Research Foundation has awarded nearly $100,000 to support a project that is seeking a better way to deliver treatments to peripheral nerve tissue. “If successful, this work will provide the evidence for further development of this novel approach to overcoming the drug delivery challenge in CMT,” Susan…
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