News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The extra copy of the PMP22 gene that causes Charcot-Marie-Tooth disease type 1A (CMT1A) leads to a potentially toxic buildup of the PMP22 protein inside cells because the excess protein cannot be folded properly and is not transported to its rightful place in the cell membrane, according…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

CMT Australia, a charity association aiming to raise awareness and empower people with Charcot-Marie-Tooth disease (CMT) to live their lives to the fullest, has received $10,000 to support the organization’s CMT Aussie Kids youth program. The Commonwealth Bank Community Grant will support activities for younger CMT patients, as…

The three components of the investigational therapy PXT3003 are all essential to significantly improve features of Charcot-Marie-Tooth disease (CMT) type 1A in cell and animal models, a new study suggests. The findings also indicate that PXT3003 could improve muscle biology in CMT1A by improving the connections between muscles…

A new protocol allows researchers to generate spinal motor neurons derived from Charcot-Marie-Tooth disease (CMT) patients, creating useful models for better understanding the disease and investigating responses to potential therapies. The protocol was described in “Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem…

Helixmith has launched a Phase 1/2 clinical trial in South Korea to investigate its gene therapy product Engensis (VM202) for the treatment of muscle symptoms in people with Charcot-Marie-Tooth disease (CMT) type 1A, the most common disease subtype. The trial was approved in April by South…

A newly-opened nonprofit called Shark Tooth Cycling aims to encourage young people in the U.S., especially those affected by Charcot-Marie-Tooth disease (CMT), to get outdoors and ride their bikes. Much like other cycling organizations — such as the diabetes-focused cycling group Team Type 1 — the Pittsburgh, Colorado foundation will work to…

Mutations in the gene HARS1, which are a cause of Charcot-Marie-Tooth disease (CMT), result in reduced protein production in neurons — providing a possible mechanism for how these mutations cause disease — a recent study found. The findings were published in The FEBS Journal, in a study titled…