Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience

Autor: Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Druh dokumentu: article
ISSN: 1750-1172
DOI: 10.1186/s13023-023-02769-4
Popis: Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA types. We report on effectiveness and safety data from 120 adults and older children with SMA types 1c-3 treated with nusinersen. Methods Patients were evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE; n = 73) or the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; n = 47). Additionally, the Revised Upper Limb Module (RULM) and 6-minute walk test (6MWT) were used in a subset of patients. Patients were followed for up to 30 months of nusinersen treatment (mean, SD; 23, 14 months). Subjective treatment outcomes were evaluated with the Patients Global Impression–Improvement (PGI-I) scale used in all patients or caregivers at each follow-up visit. Results An increase in the mean HFMSE score was noted at month 14 (T14) (3.9 points, p
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