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Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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"Not Only Has She Survived, But She Lives a Happy Life": Parents' Perspectives and Experiences of a Novel
Erik Landfeldt1, Camilla Udo2, Mario Cortina-Borja3
1IQVIA, Stockholm, Sweden.
Abstract:
The objective of this prospective cohort study was to explore parents' perspectives of patients' experiences of the first available novel disease-modifying therapy for SMA in Sweden. Patients with SMA and their parents/legal guardians were identified in the National Patient Register and the Multi-Generation Register. Data was recorded using an electronic questionnaire administered at baseline, and after 6, 12, and 18 months. In total, 47 parents to 33 children with SMA (mean patient age: 9 years, 59% female; 27% with SMA type I, 33% with type II, and 39% with type III) participated. All parents reported that they wished their child to be treated with nusinersen and most parents (81%) reported that they had sufficient information to make an informed treatment decision. Across follow-up, almost all parents reported having a positive experience of nusinersen. Our study provides unique insights into caregivers' real-world experiences of a novel disease-modifying therapy for SMA.
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