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Spinal muscular atrophy type 3 and treatment adherence in a changing therapeutic landscape: a national-center experience.
Croat Med J
February 2025
Barbara Sitaš, Neurology Department, University Hospital Center Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia,
Aim: To report on treatment outcomes in adult patients with spinal muscular atrophy type 3 (SMA3) who had their nusinersen treatment initiated in adulthood.
Methods: The study enrolled 11 adults treated with nusinersen for SMA3 at the Croatian National Referral Centre for Neuromuscular Disorders from 2019 to 2022. We prospectively collected validated SMA outcome measures: Revised Hammersmith score (RHS), Revised Upper Limb Module, and 6-minute walk test (6MWT) as motor function outcomes and the Individualized Neuromuscular Quality of Life questionnaire.
Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy.
Orphanet J Rare Dis
February 2025
Department of Pharmacy, Children's Hospital of Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, China.
Background: Spinal muscular atrophy (SMA) is a rare neurodegenerative disease that significantly affects multiple systems in children. Nusinersen, the first approved treatment for SMA, enhances SMN protein production by targeting the RNA splicing site of the SMN2 gene, thus improving motor function. However, the high cost of nusinersen treatment raises concerns about its economic feasibility.
View Article and Find Full Text PDFSafety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam.
J Clin Neuromuscul Dis
March 2025
Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.
Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam. We present a retrospective, single-center case series detailing our center's experience with six patients diagnosed with type 1 spinal muscular atrophy who switched from risdiplam to OA. Risdiplam was discontinued the day before the OA infusion, and we evaluate the safety aspects of this switch.
View Article and Find Full Text PDFComparative efficacy of risdiplam and nusinersen in Type 2 and 3 spinal muscular atrophy patients: A cohort study using real-world data.
J Neuromuscul Dis
November 2024
Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Three medications have been approved for spinal muscular atrophy (SMA) treatment. No head-to-head clinical trials have directly compared the efficacy of nusinersen and risdiplam. We compare the efficacy of them in Type 2 and 3 SMA patients, with 6 months of follow-up.
View Article and Find Full Text PDFThe influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy.
Neuromuscul Disord
February 2025
Pharma Personalized Healthcare, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
The severity of spinal muscular atrophy (SMA) is inversely correlated with the number of survival of motor neuron 2 (SMN2) copies an individual has. This observational, retrospective analysis of natural history data included untreated individuals with a genetic diagnosis of types 1-3 SMA and stratified disease-related characteristics by SMN2 copy number. The outcomes investigated were time to: death, permanent ventilation, respiratory support, feeding support, scoliosis surgery, and achievement and loss of motor milestones.
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