News

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…

A gene therapy designed to reduce the levels of PMP22 — the protein overly produced in Charcot-Marie-Tooth disease type 1A (CMT1A) — significantly lessened functional deficits in a mouse model of the disease, a study shows. The approach, based on an artificial microRNA (miRNA) molecule, was found to significantly…

The ability to walk in children and adolescents with Charcot-Marie-Tooth (CMT) disease is similarly impaired regardless of their type of foot deformity, according to a small study. The study, “Do different foot types affect the 6-min walk test capacity of younths with Charcot-Marie-Tooth neuropathy,” was published in BMC…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in the functional domains of the resulting IGHMBP2 enzyme may be linked to more severe forms of the disease. Missense mutations…

Enrollment into Pharnext’s pivotal Phase 3 PREMIER clinical trial, testing the effectiveness and safety of PXT3003 for people with mild-to-moderate Charcot-Marie-Tooth type 1A (CMT1A), is complete. The study exceeded its target number of participants, recruiting 387 patients in 52 centers across the U.S., Canada, Europe, and Israel. Top-line…