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…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
The Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as Charcot-Marie-Tooth (CMT) disease. Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized regulatory…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
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