News

High levels of the toxic RNA molecule associated with myotonic dystrophy type 1 (DM1) lead to defects in muscle regeneration and in the number of muscle stem cells — or satellite cells — and promotes muscle fibrosis (scarring) upon injury, according to a study in a mouse model of DM1.

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000 in grants, totaling…

Top-line data from the VISION-DMD Phase 2b clinical trial evaluating vamorolone in boys with Duchenne muscular dystrophy (DMD), showed efficacy across primary and secondary study goals. The investigational therapy was also well-tolerated with a…

A CRISPR-Cas9-based gene editing therapy promoted the production of a smaller but functional version of the dystrophin protein in a new mixed mouse model that uses muscle cells derived from Duchenne muscular dystrophy (DMD) patients. The therapy is designed to delete a DMD gene region that is commonly mutated in people…

Asklepios BioPharmaceutical (AskBio) is planning to launch a Phase 1/2 clinical study to evaluate LION-101, its investigational gene therapy for limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9). Dosing in the trial is expected to start in the first half of next year. “We are excited to begin clinical trials…

For the first time, a new mouse model has been shown to mimic the heart disease features — specifically, to progress into late-stage heart failure, similar to humans — of people with Duchenne muscular dystrophy (DMD), a study reports. Moreover, using the new mouse model, researchers gathered promising data…

Sarepta Therapeutics‘ investigational gene therapy SRP-9001 showed early signs of biologic efficacy in muscle biopsies from 11 boys with Duchenne muscular dystrophy (DMD) treated in a Phase 1 clinical trial, the company announced in a press release. “Robust” expression of micro-dystrophin was evident in cells at 12…

Two more participants have been dosed in the IGNITE DMD clinical trial, bringing to eight the total number of Duchenne muscular dystrophy (DMD) patients thus far given Solid Biosciences‘ investigational gene therapy SGT-001. The U.S. trial is testing SGT-001’s safety and efficacy in boys with DMD ages…

The U.S. Food and Drug Administration (FDA) has granted fast track designation to losmapimod, a potential treatment for facioscapulohumeral muscular dystrophy (FSHD) being developed by Fulcrum Therapeutics. The designation is intended to help bring effective treatments for serious conditions to market more quickly. It grants Fulcrum, as…