Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy

Authors

Stephen M. Brown, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Aparna S. Ajjarapu, Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Divya Ramachandra, Advocate Health - MidwestFollow
Laura Blasco-Pérez, Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain.
Mar Costa-Roger, Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain.
Eduardo F. Tizzano, Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, Hospital Vall d'Hebron, Barcelona, Spain.
Charlotte J. Sumner, Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Katherine D. Mathews, Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

Recommended Citation

Brown SM, Ajjarapu AS, Ramachandra D, et al. Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy. Ann Clin Transl Neurol. Published online September 28, 2024. doi:10.1002/acn3.52213

Affiliations

Advocate Children's Hospital, Oak Lawn

Abstract

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.

Document Type

Article

PubMed ID

39342433