News

The Committee for Medicinal Products for Human Use (CHMP) — part of the European Medicines Agency (EMA) — is recommending against Exondys 51 (eteplirsen) as a therapy for Duchenne muscular dystrophy (DMD) patients amenable to skipping exon 51 of the dystrophin gene, the treatment’s developer, Sarepta Therapeutics, has announced. The company…

Canada’s healthcare system is excellent for people with common ailments like diabetes or high blood pressure, but it’s “basically failing the nearly three million Canadians with rare diseases.” So says Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders (CORD), a Toronto-based network representing 102 patient advocacy…

Getting your son into a Duchenne muscular dystrophy (DMD) clinical trial can be difficult, given the narrow criteria for eligibility — like walking ability — associated with such trials. Even for families who qualify, the experience can be draining, said Pat Furlong, founder and CEO of Parent Project Muscular…

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…