News

Over 600 walkers and runners helped raised more than $100,000 during the 15th Annual New England Chapter Walk-n-Roll, on Saturday, May 16, at the DCR Wompatuck Park in Hingham, MA. The participants in the event walked through 1.5 miles to support patients who suffer from spinal muscular atrophy (SMA), gathering money to fund research to…

The non-profit organization Cure SMA has been awarded a National Institutes of Health (NIH) grant to support the preparation of its SMA Researcher Meeting. This is the seventh consecutive year that the NIH has financed the conference, and the funds will be used to support registration and travelling expenses of young fellow…

F. Hoffman-La Roche in Switzerland, PTC Therapeutics and the SMA Foundation recently provided a critical update on RG7800 safety, an investigational oral therapeutic drug currently being evaluated for the treatment of spinal muscular atrophy (SMA). SMA is a rare, devastating motor neuron disease and one of the leading…

A 21st Century Cures discussion draft has been released by the U.S. House of Representatives Energy and Commerce Committee as a basis for discussing new methods of accelerating discovery, development and delivery of novel therapies and cures. The initiative was established to investigate different ways the government can support these advancements. The newly revised and expanded…

Nonprofit organization Cure SMA has awarded a $445,000 grant to fund research on a gene therapy for the treatment of spinal muscular atrophy (SMA) conducted at Nationwide Children’s Hospital. The additional funding was granted to the principal investigator of the Center for Gene Therapy, Brian Kaspar, PhD, as announced by the organization in a recent press release.

Dallas, TX based AveXis has announced that company co-founder John Carbona has resigned from his position as CEO. Mr. Carbona will remain a Director of AveXis. This announcement stems from a succession plan, the development of which has been in process as AveXis advances clinical development of its…

Previously thought to be a disease only of motor neurons, spinal muscular atrophy (SMA) is now also known to be influenced by support cells of the central nervous system. Specifically, astrocytes, which regulate synapse formation between neurons and provide metabolic support for neurons, are essential to the pathogenesis of SMA…

PTC Therapeutics recently announced the release of clinical data from their Phase I trial testing the effects of the company’s oral formulation RG7800 to improve the status of spinal muscular atrophy (SMA) patients. The study entitled “SMN2 splicing modifier RG7800 shows dose-dependent increase of full length SMN2 mRNA in first-in-human study” was…

A new study by an international research team characterized three new cases of a rare medical condition where spinal muscular atrophy (SMA) is associated with progressive myoclonic epilepsy (PME). The study is entitled “Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations…

The nonprofit organization Cure SMA has released another one of its booklets focused on improving care for patients with spinal muscular atrophy (SMA). This edition, which is entitled “The Musculoskeletal System” and included in the organization’s care series booklets, aims to increase knowledge on muscles…