News

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…

The chemotherapy agent oxaliplatin does not increase the risk of chemotherapy-induced peripheral neuropathy (CIPN), one of its most common side effects, in patients with uncommon variants in genes that cause Charcot-Marie-Tooth (CMT) disease, a study found. Treatment with oxaliplatin should not be interrupted if such genetic variants are…

Telemedicine is valuable for continuing physical therapy with people unable to travel or affected by the ongoing pandemic, according to researchers who used it to help a man in Italy, the first known case of a Charcot-Marie-Tooth (CMT) patient suspected of having COVID-19.  Their report,…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…