News

Mutations in the ITPR3 gene appear to cause an intermediate form of Charcot-Marie-Tooth disease (CMT) that shows axonal degeneration and demyelination, a recent study suggests. While IP3R3 — the protein coded by ITPR3 — is thought to be needed to maintain the protective myelin sheath, defects in…

People with Charcot-Marie-Tooth (CMT) and mutations in the MPZ gene have highly variable disease symptoms, according to a recent Japanese study, which found that these patients may be diagnosed with either demyelinating or axonal forms of the disorder. Notably, the MPZ genetic variations seen in Japanese patients are…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Ancora Innovation is funding a research project at Vanderbilt University aiming to realize potential new treatments for Charcot-Marie-Tooth disease (CMT), according to a university press release. The research will be led by Charles Sanders, PhD, a biochemistry professor and associate dean for research at Vanderbilt. Sanders and his…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

AcuraStem has identified 37 compounds that improve nerve cell survival and might help treat Charcot-Marie-Tooth disease type 2A (CMT2A), according to a press release from the CMT Research Foundation. CMT2 accounts for roughly one-third of CMT cases and CMT2A is its most common subtype. Inherited mutations in…

As a result of significant reductions in walking and physical therapy, people with Charcot-Marie-Tooth (CMT) disease reported worsening physical skills and pain scores after the COVID-19 lockdowns, a recent survey found. Their responses highlight the need to encourage CMT patients to resume their previous…

An international observational study using a smartphone-based app called CMT&Me is exploring the impact of Charcot-Marie-Tooth disease (CMT) on patients and caregivers. The study (NCT03782883) was designed by Vitaccess in collaboration with Pharnext. Its goal is to collect detailed patient-reported data to help researchers and clinicians…

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…