News

The first patient has been enrolled in what’s regarded as the first natural history study of Charcot-Marie-Tooth disease type 4 (CMT4J), with the ultimate goal of one day developing a gene therapy for the disease, announced the study’s collaborators, Neurogene and UT Southwestern Medical Center. The study’s…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

The foot function index may be a promising tool to capture the impact of foot impairments in patients with Charcot-Marie-Tooth disease type 1A (CMT1A), a study says. The findings of the study, “Foot Function Index: a promising questionnaire for patients with Charcot-Marie-Tooth disease type 1A,”…

New findings suggest that Schwann cells are able to make the protective layer myelin for multiple nerve cells. This discovery goes against conventional wisdom about how Schwann cells work, and it could have major implications for our understanding of peripheral neurodegenerative diseases, including Charcot-Marie-Tooth disease (CMT). The study with that…

Some $10 million in National Institute of Neurological Disorders and Stroke (NINDS) grants aimed at accelerating clinical trials in rare neurological disorders will support a Charcot-Marie-Tooth (CMT) disease biomarkers project. Funding comes from NINDS’ Clinical Trial Readiness for Rare Neurological and Neuromuscular Diseases program, established to back investigations…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

The key protein mutated in patients with Charcot-Marie-Tooth (CMT) disease type 2Y works to break down cellular complexes via a sort of “hand over hand” mechanism, a study found. The newly identified structure of the p97 protein may help in determining new targets for possible therapies, its researchers added.

Children with Charcot-Marie-Tooth disease have reduced physical activity and ambulation, factors linked with greater disability, a study suggests.  The study, “Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study” was published in the journal PLOS One. Charcot-Marie-Tooth (CMT) leads to progressive muscle…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

A new study reports two mutations in the gene C1orf194 that cause Charcot-Marie-Tooth disease (CMT), adding to the body of knowledge about genetic causes of the condition. The study, “Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease,” was published in the journal Brain. More than…