Key result
Baseline assessments including the Motor Function Measure, pulmonary function, strength, and muscle imaging successfully discriminated between different severity groups of patients with Type 2 and 3 spinal muscular atrophy.
Observational (n=81)
Yes
Baseline data from a multicenter natural history study of SMA Type 2 and 3 demonstrates that multiple functional and biomarker assessments can effectively discriminate between disease severity groups.
Baseline SMA Type 2/3 characterization establishes multi-site feasibility; leaves open validation of sensitive endpoints for trials.
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. TRIAL REGISTRATION: ClinicalTrials.gov (NCT02391831).
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Chabanon et al. (2018) conducted an observational in Type 2 and 3 spinal muscular atrophy (n=81). Spinal muscular atrophy Type 2 and 3 vs. Different severity groups (non-sitter Type 2, sitter Type 2, non-ambulant Type 3, ambulant Type 3) was evaluated on Baseline functional and biomarker assessments (Motor Function Measure, pulmonary function, strength, muscle imaging). Baseline assessments including the Motor Function Measure, pulmonary function, strength, and muscle imaging successfully discriminated between different severity groups of patients with Type 2 and 3 spinal muscular atrophy.
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