Variants in the genes GJB1, MFN2 and MPZ are the predominant causes of Charcot-Marie-Tooth disease (CMT) across Japan, and the first decade of life is the most common onset period for CMT patients in the country, a large, nationwide study suggests. Researchers also…
To keep their balance while standing upright, children and adolescents with Charcot-Marie-Tooth (CMT) disease seem to adopt a more stiff posture and sway their bodies less than healthy individuals, researchers report. Their findings were published in the study, “Characterizing postural oscillation in children…
A newly launched international observational study is going to explore the overall impact of Charcot-Marie-Tooth disease (CMT) using a tailored app called CMT&Me. Designed by Vitaccess in collaboration with Pharnext, this new trial is expected to provide information on the disease’s medical, social, and economic impact, as…
Investigational compound PXT3003Â consistently eased disability in patients with mild to moderate Charcot-Marie-Tooth disease type 1A (CMT1A), according to top-line Phase 3 results from Pharnext, which also found that the therapy was safe and well-tolerated. The PLEO-CMT Phase 3 trial (NCT02579759) was a pivotal, 15-month, double-blind study…
Along with Chris Comish, President and CEO of Charcot-Marie-Tooth’s parent company Bionews Services, I recently had the opportunity to attend the FDA Patient-Focused Drug Development (PFDD) Meeting for Charcot-Marie-Tooth disease. Hosted by the Hereditary Neuropathy Foundation in conjunction with the Food and Drug Administration, this meeting was one in an ongoing…
Nationwide Children’s Hospital (NCH) has granted the exclusive rights of neutotrophin 3 (NT-3), its gene therapy candidate for the treatment of Charcot-Marie-Tooth (CMT) neuropathies, to Sarepta Therapeutics. Researchers plan to start a Phase 1 trial for the NT-3 therapy in CMT type 1A (CMT1A) patients next year.
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
Two Charcot-Marie-Tooth (CMT) patients, Patrick Livney and Susan Ruediger, have launched the CMT Research Foundation (CMTRF), a nonprofit group committed to developing treatments and cures for the disease. The Atlanta-based CMTRF will rely on the two patients’ personal experience, professional knowledge and partnerships to achieve its goals. Livney,…
Two brothers with X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), who carried newly identified mutations in the PRPS1 gene, experienced temporary but recurrent symptoms of muscle weakness after taking ill with fever, a case study notes. According…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
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