Charcot-Marie-Tooth News

January 14, 2022January 14, 2022

Novel MPZ Gene Mutations Causing CMT1B in Chinese Patients

Two newly reported mutations in the MPZ gene resulted in Charcot-Marie-Tooth (CMT) disease type 1B in Chinese patients, according to a recent study. Taken together with previous cases, the findings ... Read more

January 7, 2022January 7, 2022

Family Donates $1M to CMT Research Foundation’s ENDGAME Campaign

Charcot-Marie-Tooth News

Michele and Kent Stahl and their family have donated $1 million to the CMT Research Foundation (CMTRF). The donation goes to support CMTRF’s ENDGAME campaign, which aims to put an ... Read more

January 5, 2022January 5, 2022

NFL Biomarker May Be Unsuitable to Measure CMT1A Outcomes

Charcot-Marie-Tooth News

Blood levels of the protein neurofilament light chain (NFL), a biomarker of several neurological disorders, may not be suitable to measure outcomes in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), ... Read more

December 29, 2021December 29, 2021

New CMT-causing Mutations Found in Korean Study

Charcot-Marie-Tooth News

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 ... Read more

December 22, 2021December 22, 2021

Armatus Bio to Lead Development of CMT1A Gene Therapy

Charcot-Marie-Tooth News

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 ... Read more

December 17, 2021December 18, 2021

CMTX5 in Japanese Patient Linked to New PRPS1 Gene Mutation

Charcot-Marie-Tooth News

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 ... Read more

December 15, 2021December 16, 2021

Research Projects Launched With CMTA Seed Money Win NIH Funds

Charcot-Marie-Tooth News

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 ... Read more

December 10, 2021December 10, 2021

HINT1 Mutations Linked to CMT Spectrum in Greek Patients

Charcot-Marie-Tooth News

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 ... Read more

December 8, 2021December 8, 2021

Gene Therapy Rescues Muscle, Eases Defects in Mice With Severe CMT2D

Charcot-Marie-Tooth News

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 ... Read more

December 3, 2021December 3, 2021

Disability Greater in Underweight or Obese Children, Study Finds

Charcot-Marie-Tooth News

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. ... Read more

December 1, 2021December 1, 2021

Disease Severity, Walking Needs May Guide Patients’ Orthosis Choice

Charcot-Marie-Tooth News

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 ... Read more

November 24, 2021November 24, 2021

CMT1 May Have Increased Boy’s Susceptibility to Rare Eye Palsy

Charcot-Marie-Tooth News

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. ... Read more

November 19, 2021November 19, 2021

Project Seeks Way to Deliver Therapies to Peripheral Nerves

Charcot-Marie-Tooth News

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 ... Read more

November 17, 2021November 17, 2021

Rare Disease Groups in US Join in Plea for Care Across State Lines

Charcot-Marie-Tooth News, COVID-19 News

Over 230 national organizations signed a letter urging all 50 U.S. state governors to “maintain and expand” flexibility with licensure requirements for the duration of the COVID-19 pandemic to ease ... Read more

November 12, 2021November 12, 2021

Grant Will Further Research of Dental Pulp Stem Cells in CMT1A

Charcot-Marie-Tooth News

A researcher from Belgium who is developing a new cell-based model for Charcot-Marie-Tooth (CMT) disease has been awarded nearly $99,000 to further her research. The grant from the Charcot-Marie-Tooth Association ... Read more