Rehabilitation research in spinal muscular atrophy: a call to action

Design The landscape of spinal muscular atrophy drastically changed following the introduction of disease-modifying therapies, emphasizing the need for comprehensive rehabilitation strategies to maximize functional outcomes. Our aim is to identify the barriers faced by healthcare professionals in conducting rehabilitation research for spinal muscular atrophy and suggest potential solutions to increase evidence-based care. Methods We performed a narrative review of rehabilitation intervention studies with a quality assessment focusing on the research characteristics of each study and an international survey questioning healthcare professionals on their major areas of difficulty in conducting interventional studies. Results The review highlighted a predominantly low to unacceptable quality of the 36 retained studies across four healthcare professional domains responsible for rehabilitation: physiotherapy/physical therapy (18), occupational therapy (4), respiratory therapy (10), and speech and language therapy/speech language pathology (4). The survey was completed by 204 health care providers from 35 countries. Funding was found to be the most significant barrier to rehabilitation research, followed by study design and recruitment challenges. Conclusion Our findings highlight the urgent need for randomized controlled trials and standardized methodologies to develop robust, evidence-based multi-disciplinary rehabilitation strategies that better support individuals with spinal muscular atrophy in achieving optimal functional outcomes in the era of disease-modifying treatments.