Foundation Supports Promising Preclinical Work in CMT

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT is part of a large group of disorders called neuropathies, which are diseases characterized by nerve damage.

CMT Prevalence in Denmark May Be 16% Higher Than Estimates

The true prevalence of Charcot-Marie-Tooth disease (CMT) in Denmark may be higher than previously thought, according to a recent Danish study in which researchers applied diagnostic criteria for CMT to individuals with nerve damage and no clear underlying cause. Based on their results, the scientists estimated an approximately 16%…

Funding Supports Pharnext’s Phase 3 Trial of PXT3003

Pharnext has received €11 million ($13.3 million) in funding to support a Phase 3 trial investigating its investigational therapy PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). The proceeds include €6 million ($7.2 million) from existing shareholders and €5 million ($6 million) from European investors.

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…