News

A single dose of a gene therapy delivering a working copy of GJB1 — the gene mutated in X-linked Charcot-Marie-Tooth type 1 disease (CMTX1) — to myelin-producing cells prevented or even reversed myelin loss and motor function impairment in a mouse model of CMTX1. Notably, these benefits were observed…

Children and teenagers with Charcot-Marie-Tooth (CMT) disease have until May 15 to sign up for this year’s edition of Camp Footprint, which will be held virtually from Aug. 2 to 6. …

High-dose PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), continues to show long-term safety and efficacy, according to an early analysis of a Phase 3 extension study. All participants showed improvements on the Overall Neuropathy Limitation Scale (ONLS), a measure of physical disability. “These new results…

Corrective foot surgery lessened pain and improved foot alignment and quality of life in patients with Charcot-Marie-Tooth (CMT) disease, according to data collected over four years. The findings were published in an article, “A prospective study on surgical management of foot deformities in charcot marie tooth…

Researchers at the University of Michigan and Vanderbilt University have found that mutant PMP22 proteins pair to form a unique, stabilized complex called a dimer. The discovery, which was made using an advanced protein analysis technique, provides new insight into PMP22’s role in…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

Until April 30, the CMT Research Foundation (CMTRF) invites people to raise money supporting research into therapies for Charcot-Marie-Tooth disease (CMT), which the foundation will match up to $10,000. Volunteer ambassadors with the foundation created the Spring CMT Research Challenge to accelerate therapy development funding for this…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

Sciatic motor nerves in mice lacking the GJB1 gene — defective in people with X-linked Charcot-Marie-Tooth (CMTX) disease — regenerated more after external injury than was seen in healthy mice, a study has revealed.  These findings suggested…