Patricia Inácio, PhD, science writer —

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…

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 is collaborating with a scientist to identify fat (lipid) nanoparticles that might work as a vehicle for delivering gene therapies to the specific cells affected in people with Charcot-Marie-Tooth (CMT) disease. The partnership with James Dahlman, PhD, aims to overcome a major obstacle to new therapies…

An international Phase 3 clinical trial investigating Pharnext‘s investigational therapy PXT3003 for treating Charcot-Marie-Tooth disease type 1A (CMT1A) is on track and expected to enroll its first participants in March, the company announced. Dubbed PREMIER, the trial will include about 350 patients with mild-to-moderate CMT1A across 50 clinical…

A new study is recruiting adults with Charcot-Marie-Tooth disease (CMT) type 1A to find better methods for measuring disease progression in this patient population, the Hereditary Neuropathy Foundation announced in a press release. Named ACT-CMT, for Accelerate Clinical Trials in Charcot-Marie-Tooth Disease, the international…

A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth disease in a Spanish family, due to the concurrent presence of another non-disease causing variation in the LITAF gene, a case study reported. The deficiency in both genes — which…

Mutations in the Jagged1 (JAG1) gene may compromise the integrity of peripheral nerves — those found outside the brain and spinal cord — and lead to peripheral neuropathy associated with Charcot-Marie-Tooth disease type 2 (CMT2), a study reports. The study, “Dominant mutations of the…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Researchers have identified the first Portuguese family with Charcot-Marie-Tooth disease type 2E — caused by rare mutations in the NEFL gene — with family members showing different symptoms. The case report, “The first Portugese family with NEFL-related Charcot-Marie-Tooth type 2 disease,” was published in the journal…

Neuropathic pain — that due to damage in the nervous system — affects almost one-third of patients with Charcot-Marie-Tooth type 1 A (CMT1A) and is linked to greater disability and depression, a study from Serbia reports. The study “Neuropathic pain in patients with Charcot-Marie-Tooth type 1A” was published in…