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Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2.
Biomedicines
August 2025
Department of Basic and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Rijeka, 51000 Rijeka, Croatia.
Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. The past decade has witnessed a paradigm shift in SMA management with the advent of disease-modifying drugs (DMDs). This narrative review aims to (i) summarize pivotal randomized controlled trials (RCTs) that led to the approval of DMDs for SMA Types 1 and 2; (ii) synthesize real-world evidence on their safety and effectiveness; and (iii) explore emerging therapeutic frontiers, including gene modifiers, predictive biomarkers, prenatal interventions, and combination strategies.
View Article and Find Full Text PDFSurgical success of subcutaneous systems for intrathecal nusinersen delivery in spinal muscular atrophy: A systematic review and meta-analysis.
Clin Neurol Neurosurg
October 2025
Department of Neurological Surgery, University of Miami, Miami, FL, USA; Department of Neurological Surgery, Nicklaus Children's Hospital, Miami, FL, USA.
Background: The intrathecal administration of nusinersen to treat spinal muscular atrophy (SMA) has demonstrated therapeutic effect, however, repeat lumbar punctures confer multiple disadvantages. As such, subcutaneous systems have been described to provide an alternative, less invasive strategy for repeat administration. Correspondingly this study aimed to aggregate metadata to better define the surgical success of these subcutaneous systems.
View Article and Find Full Text PDFSurgical Access for Intrathecal Therapy in Spinal Muscular Atrophy with Spinal Fusion: Long-Term Outcomes of Lumbar Laminectomy.
J Clin Med
June 2025
Department of Orthopedic Surgery and Rehabilitation, Faculty of Medicine, Jagiellonian University, 34-500 Zakopane, Poland.
Spinal muscular atrophy (SMA) is a neuromuscular disorder frequently associated with progressive scoliosis requiring posterior spinal fusion (PSF). While Nusinersen offers significant clinical benefit, its intrathecal administration is challenging in patients with extensive spinal instrumentation and solid fusion. This study aimed to evaluate the safety, feasibility, and patient acceptance of lumbar laminectomy as a method to restore intrathecal access for repeated Nusinersen delivery in this population.
View Article and Find Full Text PDFAseptic meningoencephalitis during nusinersen therapy in a patient with type III spinal muscular atrophy: a case report.
Neuromuscul Disord
May 2025
Department of Neurology, University Hospital Zurich, Zurich, Switzerland. Electronic address:
Nusinersen, an intrathecally-administered antisense oligonucleotide for the treatment of spinal muscular atrophy (SMA), may rarely cause mild aseptic meningitis early in treatment. We report a severe late-onset aseptic brain stem meningoencephalitis in a 42-year-old man with type III SMA, occurring 38 months after starting nusinersen. The patient showed clinical and radiological signs of brain stem meningoencephalitis with significant CSF neutrophilic pleocytosis, despite negative infectious disease tests.
View Article and Find Full Text PDFEarly life safety profiling of gene therapy for spinal muscular atrophy.
Gene Ther
April 2025
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
The present study examines the safety profile of intravenous onasemnogene abeparvovec gene therapy in a real-world setting, both alone or in combination with intrathecal antisense oligonucleotide nusinersen therapy in two cohorts of patients with spinal muscular atrophy (SMA). The first cohort included eight presymptomatic infants treated solely with onasemnogene abeparvovec, while the second cohort comprised six symptomatic infants receiving onasemnogene abeparvovec and nusinersen co-therapy. All patients received the corticosteroid prednisolone coincident with gene therapy.
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