News

The investigational gene therapy Engensis (VM202) was generally safe and showed signs of effectiveness at easing sensory neuropathy, or nerve damage, and improving muscle health in people with Charcot-Marie-Tooth disease type 1A (CMT1A), according to data from a Phase 1 clinical trial. A larger Phase 2 trial is…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

People with Charcot-Marie-Tooth disease type 1A (CMT1A) show a poorer performance in cardiopulmonary exercise testing using a stationary bicycle relative to healthy individuals, a study shows. Cardiopulmonary exercise testing (CPET) is a non-invasive assessment of the cardiopulmonary system at rest and during exercise. Notably, this poorer performance appeared to be…

The Charcot-Marie-Tooth Association (CMTA) will hold its 20th annual Patient/Family Conference — designed to empower and connect the Charcot-Marie-Tooth community and share the latest scientific breakthroughs and resources in managing the disease — virtually on Nov. 6. This marks the second year in a row that the conference will…

A new partnership is seeking to identify people with a mutation in the sorbitol dehydrogenase (SORD) gene — the cause of a newly identified type of Charcot-Marie-Tooth disease (CMT) — who may be eligible for clinical trials investigating potential treatments for this recessive subtype. In this collaboration, the Charcot–Marie–Tooth…

PXT3003, a potential treatment for Charcot–Marie–Tooth type 1A (CMT1A) being developed by Pharnext, showed “promising” results and good safety at high dose in a recently completed first Phase 3 clinical trial, researchers reported. The therapy was found to ease disabilities in those affected by the disease, based…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

The gene-editing technology CRISPR/Cas9 effectively inactivated a specific mutation in the NEFL gene that causes Charcot-Marie-Tooth disease type 2E (CMT2E), a study reports. Correction of this mutation prevented the harmful buildup of neurofilament light chain (NfL) protein in motor neurons — specialized nerve cells that control muscle function —…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

The Hereditary Neuropathy Foundation, known as HNF, is joining forces with Rarebase, a biotech company, on a project that aims to identify potential treatments for multiple different types of Charcot-Marie-Tooth disease (CMT). It is the first research initiative to tackle multiple types of CMT in one project,…