News

Scientist Timothy Hines, PhD, was awarded a grant of $20,000 to establish cell models to study Charcot-Marie-Tooth (CMT) disease at the recent live-streamed Young Investigator Draft ceremony. The grant, co-funded by Uplifting Athletes and the CMT Association (CMTA), will help Hines to use human cells to further…

The first patient has been enrolled in a pivotal Phase 3 trial testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A), the company announced. Called PREMIER (NCT04762758), the trial intends to recruit approximately 350 patients, ranging in age from 16 to 65, with mild to…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

Depression, hand-and-finger weakness, and a lengthy delay from symptoms to diagnosis contribute to the burdens felt by people living with Charcot-Marie-Tooth disease (CMT). Those are among the key findings of the ongoing CMT&Me study, recently presented in a webinar hosted by Vitaccess. The entirely app-based…

The Charcot-Marie-Tooth Association (CMTA) has awarded $1.1 million to help scientists advance clinical trials evaluating potential treatments for CMT1X — a subtype comprising 15% of all cases among this group of inherited disorders — and CMT2A, which affects about 5% of people with the disease. This new funding…

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…

A higher number of daily steps, measured through wearable sensors, was associated significantly with more lower-body strength and functional abilities in adults with Charcot-Marie-Tooth (CMT) type 1 A disease, according to recent data from a pilot study. The findings support the use of physical activity as a future outcome…

A large multicenter study on the natural history of Charcot-Marie-Tooth disease type 2A (CMT2A) correlates different genetic profiles and disease-causing mutations to their effect on disease severity and progression.  The findings will help inform prognosis and provide data to support clinical…

An RNA-based treatment normalized the levels of the key PMP22 protein as well as motor function and muscle strength in two mouse models of Charcot-Marie-Tooth type 1 A disease (CMT1A), including one of severe disease, a study shows. This forms the basis of a possible precision medicine approach for…

The CMT Research Foundation will grant additional funding to a project investigating a potential gene therapy to reduce the elevated levels of the protein PMP22 that cause Charot-Marie-Tooth type 1A (CMT1A).  The funding will help support…