Research Article: Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec—Preliminary Results
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.
Introduction:
Spinal muscular atrophy (SMA) is a group of hereditary neuromuscular diseases with a range of different genotypes. The most common is 5q SMA, which includes mutations in the SMN1-gene and covers approximately 95% of the spectrum of SMA cases [1,2]. It leads to progressive muscle weakness and atrophy due to loss of lower motor neurons [3]. SMA forms caused by mutations in other genes are called non-5q-SMAs [4]. The severity of the disorder manifests from mild (SMA type 4) to severe (SMA type 1), and the clinical…
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