News

Evrysdi (risdiplam) has been approved for the treatment of spinal muscular atrophy (SMA) in Brazil by the country’s National Health Surveillance Agency, known as ANVISA. The Brazilian approval came within seven months of Roche’s original submission, with the country becoming the second to approve the medicine,…

People living with spinal muscular atrophy (SMA) who need financial help to pay for treatment may now apply for aid through a new patient assistance program offered by the PAN Foundation. The foundation’s new program will provide up to $6,500 annually to each eligible patient. The money…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Chugai Pharmaceutical, part of the Roche Group, is asking that risdiplam be approved as a daily oral treatment for spinal muscular atrophy (SMA) patients in Japan. A new drug application seeking approval, submitted to that country’s Ministry of Health, Labour and Welfare (MHLW), may be given priority review…

Adults with spinal muscular atrophy (SMA) who began being seen at specialty centers after the approval of Spinraza (nusinersen) may have more severe symptoms than adults who have been followed regularly at such centers, a new study suggests. The study, “Sometimes they come back: new and…

A new campaign is seeking to raise awareness of key motor development milestones for infants that, if missed, could mean spinal muscular atrophy (SMA) or other neuromuscular conditions. It’s been launched by Novartis Gene Therapies in collaboration with a diverse group of experts in the United Kingdom. Called…

Gene therapy that increased the production of a protein called DOK7 in a spinal muscular atrophy (SMA) mouse model was found to improve the neuromuscular junction structure, reduce muscle fiber loss, improve grip strength, and extend survival.  These study findings suggest that DOK7…

Adults with spinal muscular atrophy (SMA) type 3 have significantly lower levels of several molecules that help regulate actin, one of the major components of the cell’s cytoskeleton, according to a study. These findings, from blood and connective tissue cells, add to information from a previous study showing…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions to…

The EONIS system, a screening assay capable of simultaneously testing newborns for three genetic conditions, including spinal muscular atrophy (SMA), has received a CE marking from the European Commission for an in vitro device. The approval will allow its developer, PerkinElmer, to make the EONIS device available…