News

Mutations in LRSAM1 Gene Tied to Rare CMT Subtype

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 –…

Pandemic Won’t Stop Rare Disease Day on Feb. 28

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…

Pivotal CMT1A Trial to Begin Patient Enrollment Soon

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…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

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…

New Virtual Fitness Program Offers Free Live Classes for All Levels

The Hereditary Neuropathy Foundation (HNF) has launched a new virtual fitness platform to promote the practice of safe physical activity among patients with Charcot-Marie-Tooth (CMT) disease. The “Movement is Medicine” Fitness Ambassador program will enable members of HNF’s Movement is Medicine initiative to have access to weekly live…

Research Ongoing Into Newly Identified Subtype Tied to SORD Gene

Researchers are investigating whether treatments for other disorders might benefit people with a newly identified type of Charcot-Marie-Tooth disease (CMT) that may be a common recessive form of hereditary neuropathy. They are inviting people diagnosed with CMT but with no clear disease-causing mutation to help by joining a registry…