News

Delivering a healthy neurotrophin-3 (NT-3) gene to muscle cells in a mouse model of Charcot-Marie-Tooth disease type X1 (CMTX1) prevented motor function decline and eased defects in nerve and muscle structure, a study found. These results support an NT-3 gene therapy as a potential treatment…

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…

Mutations in the LRSAM1 gene result in the rare, type 2P subtype of Charcot-Marie-Tooth disease, but the location of such mutations within the gene appears to influence the inheritance pattern and possibly the disease mechanism of CMT2P, according to a recent study. The study, “Location matters –…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

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…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Treating a woman with Charcot-Marie-Tooth disease type 2 (CMT2) with an anti-inflammatory compound isolated from green tea led to increased muscle mass, improved motor skills, and reduced body fat and inflammatory markers, a case study reports. The study, “…

Mutations in a mitochondrial gene that does not code for a protein have been implicated, for the first time, in the development of Charcot-Marie-Tooth (CMT) disease. These gene mutations were found in a large, indigenous Venezuelan family with more than 3,700 living members, nearly 100 of…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…