Patricia Inácio, PhD, science writer —

Scientists have pinpointed a new genetic mutation in the PMP22 gene as the cause of Charcot-Marie-Tooth disease type 3 (CMT3) in a 26-year-old Chinese man. Titled “A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3,” the case report was published in the journal Medicine. The…

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…

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…

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…

Scientist Timothy Hines, PhD, was awarded a grant of $20,000 to establish cell models to study Charcot-Marie-Tooth (CMT) disease at the recent live-streamed Young Investigator Draft ceremony. The grant, co-funded by Uplifting Athletes and the CMT Association (CMTA), will help Hines to use human cells to further…

The first patient has been enrolled in a pivotal Phase 3 trial testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A), the company announced. Called PREMIER (NCT04762758), the trial intends to recruit approximately 350 patients, ranging in age from 16 to 65, with mild to…

An RNA-based treatment normalized the levels of the key PMP22 protein as well as motor function and muscle strength in two mouse models of Charcot-Marie-Tooth type 1 A disease (CMT1A), including one of severe disease, a study shows. This forms the basis of a possible precision medicine approach for…

The CMT Research Foundation is collaborating with a scientist to identify fat (lipid) nanoparticles that might work as a vehicle for delivering gene therapies to the specific cells affected in people with Charcot-Marie-Tooth (CMT) disease. The partnership with James Dahlman, PhD, aims to overcome a major obstacle to new therapies…

An international Phase 3 clinical trial investigating Pharnext‘s investigational therapy PXT3003 for treating Charcot-Marie-Tooth disease type 1A (CMT1A) is on track and expected to enroll its first participants in March, the company announced. Dubbed PREMIER, the trial will include about 350 patients with mild-to-moderate CMT1A across 50 clinical…

A new study is recruiting adults with Charcot-Marie-Tooth disease (CMT) type 1A to find better methods for measuring disease progression in this patient population, the Hereditary Neuropathy Foundation announced in a press release. Named ACT-CMT, for Accelerate Clinical Trials in Charcot-Marie-Tooth Disease, the international…