News

The European Medicines Agency (EMA)’s Committee for Medicinal Products for Human Use (CHMP) recommended expanding the use of Translarna (ataluren) to ambulatory children ages 2-5 with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation (nmDMD). CHMP’s recommendation of Translarna use in younger children is based…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

The Greek father of a boy with Duchenne muscular dystrophy (DMD) — and a financial consultant — says that when it comes to research on rare diseases, crowdfunding and support from the European Union are nice, but simply not enough. Venture capital and large-scale corporate investment are clearly the way to…

Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation? What about stem-cell research, three-parent…

Researchers have generated skeletal muscle from human stem cells in the laboratory, an achievement that may advance development of treatments and tissue replacement for patients with muscular dystrophy (MD). Those findings are reported in the study, “Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Daiichi Sankyo announced positive safety findings in a Phase 1/2 trial of its investigational dystrophin gene therapy DS-5141 in a small group of Duchenne muscular dystrophy (DMD) patients, but noted results failed to show clear evidence of efficacy on a key endpoint. Evidence of exon-skipping was found, the company reported in…

Two years after approving it, the 28-member European Union will begin enforcing its General Data Protection Regulation (GDPR) — a tough new law that aims to protect the EU’s 512 million citizens, including rare disease patients, from having their medical records misused, sold, or subject to extortion by hackers, third…

Sarepta Therapeutics and Invitae, a company specializing in genetic diagnostics, are expanding a partnership to help clinicians more quickly identify people with Duchenne muscular dystrophy (DMD). Sarepta is working to advance a number of potential — and an approved — disease-modifying treatments for DMD in a series of clinical…

The U.S. Food and Drug Administration recently granted rare pediatric disease designation to Myonexus Therapeutics’ experimental gene therapy MYO-101 for the treatment of limb girdle muscular dystrophy (LGMD) type 2E, or LGMD2E. The announcement was made by Myonexus and Nationwide Children’s Hospital. The designation allows priority review for the…