Author Archives: Marisa Wexler MS

A free resource booklet, published by Cure SMA, may help people with spinal muscular atrophy (SMA) to better understand the possible risks and benefits of combining different treatments for the disease. The booklet, titled “Scientific Considerations for Drug Combinations,” is available online. The past several…

Health Canada has approved Novartis‘ gene therapy Zolgensma (onasemnogene abeparvovec) to treat pediatric spinal muscular atrophy (SMA) patients who have three or fewer copies of the SMN2 gene, or with infantile-onset disease. “Today’s announcement about the Canadian approval of Zolgensma is a significant milestone in our journey to reimagine…

Administering Spinraza (nusinersen) via a particular method of injection, called the paramedian approach, can shorten procedure times and reduce the occurrence of adverse events for people with spinal muscular atrophy (SMA), a small study suggests. This method may prove to be a much easier route of administration…

An infant with type 0 spinal muscular atrophy (SMA), a severe disease form evident before birth, began treatment with Spinraza (nusinersen) at 2 weeks old and showed mild improvement, but died of cardiac arrest months later. The case is one of the few documented instances of Spinraza…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

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…

England’s National Institute for Health and Care Excellence (NICE) is expanding its appraisal of Zolgensma, a gene therapy for spinal muscular atrophy (SMA), according to a press release from SMA UK. NICE had previously planned to conduct evaluations of clinical trial and cost-effectiveness data,…

A clinical trial testing oral amifampridine phosphate in people with spinal muscular atrophy (SMA) type 3 who are able to walk is fully enrolled, Catalyst Pharmaceuticals announced in a press release. Marketed under the brand name Firdapse, amifampridine phosphate is approved in the U.S. and the…