News

The U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) has granted promising innovative medicine (PIM) designation to PXT3003 for the treatment of people with Charcot-Marie-Tooth type 1A (CMT1A) aged 16 and older. PIM designation indicates that the MHRA considers PXT3003, an experimental oral therapy developed by Pharnext, likely to…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

France-based Pharnext will use a capital raise of about 7.7 million euros ($8.4 million) to support the clinical development of PXT3003, the company’s experimental treatment for Charcot-Marie-Tooth disease type 1A (CMT1A). Led by existing investors, the funding included some U.S. institutional investors and Pharnext management members. “We…

A mutation in the SEPT9 gene — which provides instructions for making the septin-9 protein that is involved in many cell functions, including cell division and movement — can lead to the development of Charcot-Marie-Tooth disease, according to a new case report. Titled “Identification of a rare…

Acceleron Pharma is discontinuing the clinical development of ACE-083, its experimental treatment candidate for Charcot-Marie-Tooth (CMT) disease, based on recent data from a Phase 2 trial. While the trial met its primary goal of showing a significant increase in patients’ muscle volume, this increase failed to translate…

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…

To promote the value of exercise in Charcot-Marie-Tooth disease, the Hereditary Neuropathy Foundation is bringing its latest summit to central Florida. The free Movement is Medicine Summit Orlando will be held March 21 in Winter Park at the 80,000-square-foot, state-of-the-art Center for Health and Wellbeing, a…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

The density of nerve fibers found within the epidermis — the outermost layer of the skin — can be used to evaluate outcomes in clinical trials involving patients with Charcot-Marie-Tooth type 1A (CMT1A), a new study shows. The study, “Intraepidermal nerve fiber density as biomarker in Charcot-Marie-Tooth disease…