Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function.

Background: Improvement and maintenance of bulbar function are important goals of disease-modifying treatments (DMTs) for spinal muscular atrophy (SMA), but standardized and validated measures for assessing bulbar function do not exist, nor does a widely accepted definition of bulbar function in SMA. As such, the impact of DMTs on bulbar function has not yet been comprehensively evaluated.

Objective: We conducted a systematic literature review (SLR) to identify evidence about the impact of DMTs for SMA on bulbar function.

Methods: We used the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines to conduct this review. Embase^® and MEDLINE^® databases were searched through August 10, 2023. Eligible studies included patients with SMA who were treated with any DMT and reported bulbar function outcomes. Non-English studies were excluded.

Results: We identified 51 studies (across 83 publications) that evaluated SMA DMTs and bulbar function for more than 1600 patients. The ability to feed orally, the ability to tolerate liquids, and the need for nutrition support were commonly reported. Most infants treated with any DMT before SMA symptom onset preserved bulbar function. Infants, children, and adults treated after SMA symptom onset experienced variable results in terms of bulbar function outcomes.

Conclusions: The definition and assessment of bulbar function are not standardized. Therefore, the tools, scales, methods, and timing used for bulbar function assessments varied among studies. Larger prospective studies using standardized and age-based assessments with longer follow-up periods are needed to assess the clinical stability of bulbar function for patients with SMA who receive DMTs.