JMIR Publications

ABSTRACT

Background:

Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that causes muscle weakness and is a leading genetic cause for infant mortality worldwide. While no definitive cure exists, the approval of three genetic based therapies since 2018 in Canada has lead to significant improvements in muscle function for children with SMA. With that, there are no evidence-based rehabilitation interventions and minimal evidence on the combined effects of genetic based therapies and rehabilitation. The objective of the study is to assess the feasibility of a twice-weekly outpatient rehabilitation intervention focusing on gross and fine motor function to inform the methodology and sample size of a definitive clinical trial.

Methods:

The study is a single centre, non-randomized pilot and feasibility trial to explore an outpatient rehabilitation intervention for children 6 months to 3 years old with SMA treated with genetic based therapies. Participation in the study will occur over a 25-week period, with a baseline assessment visit followed by a 12-week intervention period and 12-week non-intervention period. The rehabilitation intervention comprises weekly physical and occupational therapy for 11 weeks. Assessments will occur at Baseline (week 0), End-of-Intervention/Early Withdrawal (week 12) and Follow-up (week 24). Pre-determined feasibility indicators will evaluate study feasibility across process, resource, management and scientific domains. Discussion: The proposed twice-weekly outpatient rehabilitation intervention will be the first step towards filling the need for an evidence-based rehabilitation intervention for children with SMA treated with genetic based therapies. In the future, a definitive trial will measure the efficacy of the intervention.