Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy
Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene-abeparvovec (OA) at 3.5 weeks of life. They had no treatment-related adverse events, normal acquisition of motor milestones, and normal neurological examination at 19 months. Genotyping revealed 0 copies of SMN1 and a single, hybrid SMN2 gene containing the positive genetic modifier c.835-44A>G. This was associated with full-length SMN2 blood mRNA expression levels similar to a 2 copy SMA infant. The observed favorable outcomes are likely due to the genetic modifier combined with early drug administration enabled by prematurity.
Authors
- Aparna Ajjarapu
- Stephen M. Brown (ORCID: https://orcid.org/0000-0002-1347-5908)
- Mar Costa‐Roger (ORCID: https://orcid.org/0000-0001-8949-9466)
- Laura Campello Blasco (ORCID: https://orcid.org/0000-0001-6483-5742)
- Katherine D. Mathews (ORCID: https://orcid.org/0000-0003-4160-0435)
- Eduardo F. Tizzano (ORCID: https://orcid.org/0000-0002-7116-6310)
- Divya Ramachandra
- Charlotte J. Sumner
Institutions
- University of Iowa (US)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Vall d'Hebron Institut de Recerca (ES)
- Advocate Children's Hospital (US)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1002/acn3.52213
- Citations
- 9
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 3.94
Funders
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke