Marisa Wexler, MS, senior science writer —

A new financial partnership between Pharnext and Alpha Blue Ocean will help support the Phase 3 clinical trial PREMIER, which is testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is the most common subtype of CMT type 1, which is the most common…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Augustine Therapeutics has received €1.2 million (about $1.4 million) in funding for a research project that will seek to further characterize the biology of Charcot-Marie-Tooth disease (CMT), and to investigate potential treatments. The funding was awarded by the Flanders Agency for Innovation and Entrepreneurship (VLAIO), in Belgium. “This…

More research is needed into whether different types of exercise can provide benefits to people with Charcot-Marie-Tooth disease (CMT), and how exercise affects biological processes related to CMT, a review states. The article, “Charcot-Marie-Tooth Disease: Genetic Predisposition and Effect of Resistance Training, Endurance Training, Physical Activity…

A never-before-reported mutation in the gene MFN2 was found to cause a severe form of Charcot-Marie-Tooth disease (CMT). Scientists in Japan described the case in “An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness,” published in the journal Internal Medicine.

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

Functional surgery can improve walking ability in people with Charcot-Marie-Tooth disease (CMT), and patients are generally satisfied with the outcomes, a study indicates. The study, “Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by charcot‐marie‐tooth disease: A retrospective study,” was published…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Using bioinformatics — computer-based analyses of biological data — scientists discovered 30 new genes that might be involved in Charcot-Marie-Tooth disease (CMT). Their findings also provide new insights into the biological processes and gene interactions at play in CMT, further expanding the current knowledge and understanding of the…

This October, in observance of Charcot-Marie-Tooth disease (CMT) awareness month in Europe, the CMT&Me study is launching an international competition aimed at informing people about this group of inherited disorders, and raising funds for research, according to a press release. The competition only requires that patients in…