Year: 2024
Type: article
Abstract: BACKGROUND: New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen. METHODS: - Ten patients referred to the expanded access program were included. Standardized assessments with Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed. RESULT: Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance. The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months. There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period. CONCLUSION: Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $2,940
Funders: Alzheimer's Association, Alzheimer's Drug Discovery Foundation, Familjen Erling-Perssons Stiftelse, Cure Alzheimer's Fund, Stiftelsen för Gamla Tjänarinnor, National Institute for Health and Care Research, University College London, European Commission, Hjärnfonden, Vetenskapsrådet, Akershus Universitetssykehus, UK Dementia Research Institute, HORIZON EUROPE Framework Programme, Oslo universitetssykehus HF
Awards: G1057200632, G1343867371, G150733400, G1546555014, G1551449788, G1588116593, G1771944843, G1802301745, G1833008592, G1928552717, G1938858119, G201353144, G2057385626, G2224941001, G237833635, G2434909840, G2475953241, G2543812357, G2799940023, G292763017, G3241251457, Fluid biomarkers for neurodegenerative dementias, G3842727039, G3903502641, G3914690605, G4234328627, G4244943609, G4260843567, G432431387, G4377393254, G5040492720, G506008078, G516766298, Fluid biomarkers for neurodegenerative dementias, CASCADE: CAuSe or Consequence in Alzheimer DiseasE?, G6158734006, G6289970089, Multi-omics Interdisciplinary Research Integration to Address DEmentia diagnosis, G6745400708, G691317373, G7293611571, G8782684654
OpenAlex ID: W4403285358