News

SRK-015, Scholar Rock’s muscle-targeted therapy, safely and effectively improved motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, six-month interim data from a Phase 2 trial show. These benefits were more pronounced with higher doses of SRK-015 and, not surprisingly, in…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

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…

Cure SMA, a nonprofit group supporting people with spinal muscular atrophy (SMA) and investing in SMA research, will host its first-ever virtual gala on Tuesday, Oct. 27, in an event titled Cure SMA Evening of Hope: A Virtual Masquerade. “It will be an evening celebrating innovation…

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…

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…

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…

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…

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…

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…