Author Archives: Marisa Wexler MS

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…

Identifying those spinal muscular atrophy (SMA) patients who will benefit most from treatment with Zolgensma requires more than assessing traditional SMA types, according to a consensus statement from a panel of European experts. The statement covers 11 points, and highlights that clinical trials of Zolgensma to date involved…

Perisynaptic Schwann cells — a specialized type of cell that helps facilitate communication between neurons and muscle cells — express specific molecular markers, which could make it easier to identify and investigate these cells, a new study has found. Better understanding these cells’ biology and function…

Perceptions about illness often don’t line up between children with spinal muscular atrophy (SMA) and their parents, with mothers and fathers often perceiving disease severity as worse than their children do, according to a recent study. Importantly, children’s perceptions of their disease are closely associated with their quality…

A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by Cure SMA in collaboration with the pharmaceutical industry, other patient advocacy groups, and research institutes. The program is described in a position statement, “The SMA…