Key result
Patients with type 3 spinal muscular atrophy and three copies of SMN2 had a significantly lower probability of remaining ambulant after 10 years of disease duration compared to those with four copies (70% vs. 91%).
Why the study?
New therapies change the natural history of spinal muscular atrophy, prompting the need to describe patients and the course of type 3 SMA before disease-modifying treatments became available.
Population
790 patients with spinal muscular atrophy in the Polish Registry of SMA
Design
Registry-based observational study
Authors
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Offers pre-treatment SMA3 benchmarks from Polish registry; leaves open real-world treatment effects in rare neuromuscular disease.
Observational (n=790)
Absolute Event Rate: 70% vs 91%
p-value: p=<0.0001
SMN2 copy number, sex, and age of disease onset are important prognostic factors for the natural course and ambulation in type 3 spinal muscular atrophy.
Łusakowska et al. (2021) conducted an observational in Spinal muscular atrophy (n=790). Three copies of SMN2 vs. Four copies of SMN2 was evaluated on Probability of remaining ambulant after 10 years of disease (p=<0.0001). Patients with type 3 spinal muscular atrophy and three copies of SMN2 had a significantly lower probability of remaining ambulant after 10 years of disease duration compared to those with four copies (70% vs. 91%).
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