Background
Spinal muscular atrophy (SMA) is a genetic, neuromuscular disease characterized by progressive motor neuron degeneration. With the recent availability of disease-modifying therapies (DMTs) and advances in multidisciplinary care, phenotypes in SMA are evolving. Real-world data from neuromuscular registries provide valuable insights into these emerging phenotypes, as well as remaining unmet needs.
Objective
To characterize the demographics and clinical characteristics of individuals with SMA in the Muscular Dystrophy Association (MDA) Neuromuscular Observational Research (MOVR) data hub, which collects clinical and genetic data from individuals with neuromuscular diseases seen at MDA Care Centers in the US.
Methods
Data from individuals with SMA enrolled in MOVR from 1 January 2018 to 29 April 2021 were included in this retrospective observational analysis. Demographics at baseline and clinical characteristics across the analysis period were summarized for the overall population and by age group.
Results
Overall, 181 individuals with SMA enrolled in MOVR during the analysis period. Mean baseline age was 17.8 years; 14% were <2 years, 57% were ?2–<25 years and 29% were ?25 years. Evidence of scoliosis was found in 26% (n=44/167) of enrollees who had a scoliosis assessment during the analysis period, and 35% of enrollees had ?1 hospitalization. Ventilator use occurred in 45% of enrollees and was more prevalent in the ?2–<25 years group (54%) than in the <2 years (35%) and ?25 years (33%) groups. The proportion of individuals who used a feeding tube was 25% overall and 23%, 33% and 10% in the <2 years, ?2–<25 years and ?25 years groups, respectively. In the <2 years group, 73% had ?1 measure of CHOP-INTEND, with a mean score of 45.1 (SD, 14.2) at the most recent assessment. Among enrollees who were assessed, 84% (n=111/132) exhibited head control, 70% (n=99/141) maintained unsupported seated position, 42% (n=58/137) stood without support and 44% (n=67/151) walked independently. Two-thirds of enrollees received treatment with a DMT. Updated data, including by SMA type, will be presented.
Future directions
Robustness of future analyses using MOVR data will depend on factors such as the extent of available longitudinal data and the number of enrollees with SMA, which is expected to increase over time.