Significant Disease Burden in Patients With SMA in the United States

The disease burden of spinal muscular atrophy (SMA) is considerable, researchers concluded in a study published in the Journal of Neuromuscular Diseases.

The observational, retrospective study used insurance claims data from the IBM MarketScan Commercial, Medicaid, and Medicare Supplemental databases for the years 2000 and 2013. Researchers stratified 1457 treatment-naïve patients with SMA into 4 groups based on the age at time of first ICD-9 SMA code used (the index date) and the type of ICD-9 code used. The study also included 13,362 matched controls without SMA.

Across all patient groups, SMA-associated phecodes and system classes increased in number from the pre-index to post-index periods, according to study authors. The youngest age groups in the post-index period showed the strongest associations.

In nearly every group and across time periods, endocrine/metabolic disorders were associated with SMA, reported corresponding author Julie Mouchet, PhD, of F Hoffmann-La Roche Ltd in Switzerland, and coauthors.

“This exploratory study confirmed the considerable disease burden in patients with SMA and identified 305 unique phecodes associated with SMA,” wrote study authors, “providing a rationale for further research into the natural history and progression of SMA, including extraneural manifestations of the disease.”

Reference:
Mouchet J, Roumpanis S, Gaki E, et al. Disease burden of spinal muscular atrophy: a comparative cohort study using insurance claims data in the USA. J Neuromuscul Dis. Published online October 26, 2022. doi:10.3233/JND-210764