News

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

The CMT Research Foundation has granted over $500,000 to help develop a gene therapy for Charcot-Marie-Tooth disease type 1B (CMT1B). The grant was awarded to Afrooz Rashnonejad, PhD, principal investigator at the Nationwide Children’s Hospital Center for Gene Therapy and a professor at the Ohio State University’s department of…

Treatments for all types of Charcot-Marie-Tooth disease (CMT) will be the focus of the second annual Global CMT Research Convention, Sept. 16 and 17, in Cambridge, Massachusetts. Presented by the CMT Research Foundation, the event brings together patients, scientists, and biopharmaceutical companies to celebrate treatment advancements and the pioneers…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

Newly identified mutations in the SLC12A6 gene associated with several subtypes of Charcot-Marie-Tooth (CMT) disease have been found, according to a study in Japan. The mutations also affected the central nervous system (brain and spinal cord). The findings call for the need to screen for mutations in the SLC12A6 gene…

A never-before-reported mutation in the GJB1 gene was identified in a recent case report as the cause of X-linked Charcot-Marie-Tooth (CMTX1) disease in two brothers — one of whom had more severe symptoms than the other. Both brothers showed elevated levels of a small RNA molecule called miR-206 — known…

Mutations in the MARS gene can cause axonal and intermediate childhood-onset forms of Charcot-Marie-Tooth disease (CMT), according to a study of two unrelated Chinese families. While MARS mutations were reported initially to cause an axonal form of CMT, these findings add to previous studies suggesting a link between such mutations…

Theophylline, a medication used to treat asthma and other respiratory conditions, promoted myelination — the process by which sheaths of myelin, a fatty substance, are produced around nerves to protect them — in a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a study shows. Treatment with…

People with Charcot-Marie-Tooth disease (CMT) type 2 are likely to experience inefficient sleep with more time spent awake after going to bed, according to a new study. “We can conclude that sleep in Charcot-Marie-Tooth disease is impaired, specifically for those with type 2 of the disease, which is evidenced…

Blood levels of irisin, an exercise-induced muscle hormone, are significantly lower in people with Charcot-Marie-Tooth disease (CMT) and associate with muscle strength and quality, a small study shows. The findings suggest that this protein, previously shown to have protective effects against muscle wasting, may be a useful biomarker to…