A1 Refereed original research article in a scientific journal

Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec—Preliminary Results




AuthorsSoini Venla, Schreiber Gudrun, Wilken Bernd, Hell Anna Kathrin

PublisherMDPI

Publication year2023

JournalChildren

Journal name in sourceCHILDREN-BASEL

Journal acronymCHILDREN-BASEL

Article number 998

Volume10

Issue6

Number of pages10

eISSN2227-9067

DOIhttps://doi.org/10.3390/children10060998

Web address https://doi.org/10.3390/children10060998

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/180439168


Abstract

Spinal muscular atrophy (SMA) is a rare genetic disorder, with the most common form being 5q SMA. Survival of children with severe SMA is poor, yet major advances have been made in recent years in pharmaceutical treatment, such as gene-therapy, which has improved patient survival. Therefore, clinical problems, such as the development of spinal deformities in these genetically treated SMA children represent an unknown challenge in clinical work. In a retrospective case series, the development of spinal deformities was analyzed in 16 SMA children (9 male, 7 female) treated with onasemnogene abeparvovec in two institutions during the years 2020 to 2022. Ten out of sixteen patients had a significant kyphosis, and nine out of sixteen patients had significant scoliosis, with the mean curvature angles of 24 ± 27° for scoliosis, and 69 ± 15° for kyphosis. Based on these preliminary data, it can be assumed that early-onset kyphosis presents a clinical challenge in gene-therapy-treated SMA children. Larger datasets with longer follow-up times need to be collected in order to verify these preliminary observations.


Downloadable publication

This is an electronic reprint of the original article.
This reprint may differ from the original in pagination and typographic detail. Please cite the original version.





Last updated on 2024-26-11 at 12:09