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A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified
Jeremy Slayter1,2, Victoria Hodgkinson3, Josh Lounsberry3
1Dalhousie University, Faculty of Medicine, Halifax, NS, Canada.
Background:
Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA. Standardization of OM is essential to obtain high quality data that is comparable among neuromuscular clinics.
Objective:
To develop a recommended toolkit and timing of OM for assessment of adults with SMA.
Methods:
A modified delphi method consisting of 2 virtual voting rounds followed by a virtual conference was utilized with a panel of expert clinicians treating adult SMA across Canada.
Results:
A consensus-derived toolkit of 8 OM was developed across three domains of function, with an additional 3 optional measures. Optimal assessment frequency is 12 months for most patients regardless of therapeutic access, while patients in their first year of receiving disease-modifying therapy should be assessed more frequently.
Conclusions:
The implementation of the consensus-derived OM toolkit will improve monitoring and assessment of adult SMA patients, and enrich the quality of real-world evidence. Regular updates to the toolkit must be considered as new evidence becomes available.
Insights
A consensus-derived toolkit of 8 outcome measures (OM) was developed for adult Spinal Muscular Atrophy (SMA) patients in Canada. This toolkit standardizes assessments, improving data quality for disease management and treatment decisions.
Area of Science:
- Neurology
- Rare Diseases
- Clinical Practice Guidelines
Background:
- Spinal Muscular Atrophy (SMA) affects 1 in 11,000 live births, necessitating high-quality data for emerging disease-modifying therapies.
- Canada lacks standardized outcome measures (OM) for adult SMA, hindering comparable data collection across clinics.
- Standardization of OM is crucial for informed clinical decisions regarding SMA treatment initiation and continuation.
Purpose of the Study:
- To establish a recommended toolkit of outcome measures (OM) for assessing adults with Spinal Muscular Atrophy (SMA).
- To define the optimal timing and frequency for these assessments in clinical practice.
Main Methods:
- A modified Delphi method was employed, involving expert clinicians treating adult SMA in Canada.
- Two virtual voting rounds and a virtual conference facilitated consensus on the outcome measures.
Main Results:
- A consensus-derived toolkit comprising 8 core OM across three functional domains was established.
- An additional 3 optional measures were identified.
- Optimal assessment frequency is recommended at 12-month intervals for most patients, with more frequent assessments during the first year of disease-modifying therapy.
Conclusions:
- Implementing the consensus toolkit will enhance the monitoring and assessment of adult SMA patients.
- This standardization is expected to improve the quality of real-world evidence for SMA.
- Periodic updates to the toolkit are advised as new scientific evidence emerges.
