Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series
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BACKGROUND: Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival of motor neuron (SMN) 1 gene resulting in progressive motor function loss, and additional disease-related complications, including dysphagia and respiratory failure. With three US FDA-approved disease-modifying therapies (DMTs) available for SMA, patients, caregivers and healthcare providers have become increasingly interested in using a combination of DMTs to maximize clinical benefit. Current data on combination therapy are limited, and additional studies are needed. CASE PRESENTATION: ), a once-daily oral DMT. Adverse events as well as motor, respiratory and swallowing outcomes were evaluated before and after risdiplam initiation. Twenty children were included, ten (50%) of whom were female. The majority had Type 1 SMA (n = 17; 85%) and two SMN2 copies (n = 16; 80%). At baseline, eight (40%) children were clinically diagnosed with severe dysphagia, and ten (50%) required either noninvasive ventilation or invasive ventilation via tracheostomy. The mean time from OA administration to risdiplam initiation was 15.2 months, and the mean age at risdiplam initiation was 24.9 months. The most common reasons (n = 15; 75%) for starting risdiplam were either a plateau or inadequate improvement in disease symptoms. After risdiplam initiation, seven (35%) and six (30%) children had improvements in swallowing and respiratory function, respectively. Of the children whose motor function was assessed with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and/or the Hammersmith Functional Motor Scale - Expanded after risdiplam initiation, nearly all (n = 12/13; 92%) showed stability or improvement. No serious adverse events were observed post risdiplam initiation, and one child discontinued risdiplam due to a perceived lack of effectiveness. CONCLUSIONS: Many children included in this case series had improvements in motor, respiratory and/or bulbar function after adding risdiplam following OA. No new safety concerns were observed. The real-world evidence generated from this case series provides additional information on risdiplam's risk-benefit profile after OA administration in children with SMA. Future studies with a larger cohort should be conducted.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series
- Date Crossref
- 07/07/2025
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Baylor College of Medicine Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Northwestern University Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Lurie Children's Hospital pays non établi dans la noticeÉtablissement de santé
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University of Florida Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Florida College pays non établi dans la noticeUniversité ou école supérieure
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Helen DeVos Children's Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
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University of Wisconsin–Madison pays non établi dans la noticeUniversité ou école supérieure
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Wisconsin Division of Public Health pays non établi dans la noticeÉtablissement de santé
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University of Wisconsin-Madison School of Medicine and Public Health Department of Neurology pays non établi dans la noticeUniversité ou école supérieure
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Neurology Rare Disease Center pays non établi dans la noticeInstitution
Department of Pediatrics — Baylor College of Medicine, Department of Pediatrics — Northwestern University et Lurie Children's Hospital, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.