Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Stephen M. Brown; Aparna S. Ajjarapu; Divya Ramachandra; Laura Blasco-Pérez; Mar Costa-Roger; Eduardo F. Tizzano; Charlotte J. Sumner; Katherine D. Mathews

doi:10.1002/acn3.52213

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Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Journal article

Open access

Peer reviewed

Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco-Pérez, Mar Costa-Roger, Eduardo F. Tizzano, Charlotte J. Sumner and Katherine D. Mathews

Annals of clinical and translational neurology, Vol.11(11), pp.3042-3046

11/2024

DOI: 10.1002/acn3.52213

PMCID: PMC11572727

PMID: 39342433

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Abstract

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.

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Details

Title: Subtitle: Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy
Creators: Stephen M. Brown - Johns Hopkins Medicine
Aparna S. Ajjarapu - University of Iowa
Divya Ramachandra - Advocate Children's Hospital
Laura Blasco-Pérez - Vall d'Hebron Hospital Universitari
Mar Costa-Roger - Vall d'Hebron Hospital Universitari
Eduardo F. Tizzano - Vall d'Hebron Institut de Recerca
Charlotte J. Sumner - Johns Hopkins University School of Medicine
Katherine D. Mathews - University of Iowa
Resource Type: Journal article
Publication Details: Annals of clinical and translational neurology, Vol.11(11), pp.3042-3046
DOI: 10.1002/acn3.52213
PMID: 39342433
PMCID: PMC11572727
NLM abbreviation: Ann Clin Transl Neurol
ISSN: 2328-9503
eISSN: 2328-9503
Publisher: Wiley
Grant note: Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center grant from the NINDS of the National Institutes of Health: P50NS053672
This work was supported in part by a Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center grant from the NINDS of the National Institutes of Health P50NS053672 (KDM, ASA) and NINDS R35 NS122306 (CJS).
Language: English
Electronic publication date: 09/28/2024
Date published: 11/2024
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984722563002771

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