Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like…
Articles by Marisa Wexler, MS
Risdiplam, Oral SMA Treatment, Up for Approval in Japan
Chugai Pharmaceutical, part of the Roche Group, is asking that risdiplam be approved as a daily oral treatment for …
Adults With SMA Who Sought Specialty Care After Spinraza Approval May Have More Severe Disease
Adults with spinal muscular atrophy (SMA) who began being seen at specialty centers after the approval of Spinraza…
NICE Widens Its Zolgensma Appraisal Due to European Marketing Authorization
England’s National Institute for Health and Care Excellence (NICE) is expanding its appraisal of Zolgensma, a gene therapy for…
Phase 2 Trial of Amifampridine in SMA Type 3 Patients Fully Enrolled
A clinical trial testing oral amifampridine phosphate in people with spinal muscular atrophy (SMA) type 3 who are able to walk is…
Guidance on Zolgensma in Europe Notes Lack of ‘Evidence’ for Broad Use
Identifying those spinal muscular atrophy (SMA) patients who will benefit most from treatment with Zolgensma requires more than assessing traditional…
New Glia Cell Markers May Provide Insight Into Neuromuscular Diseases, Study Says
Perisynaptic Schwann cells — a specialized type of cell that helps facilitate communication between neurons and muscle cells…
Disparities Found in Parents, Children’s Perceptions of SMA
Perceptions about illness often don’t line up between children with spinal muscular atrophy (SMA) and their parents, with mothers…
Cure SMA Details Its ‘Clinical Trial Readiness Program’
A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by…
Interviews Probe How Unaffected Siblings Learn Genetic Implications of SMA
Siblings of people with spinal muscular atrophy (SMA) who do not have the disease themselves tend to learn about…