Study of Diagnosis and Treatment Experiences in Adults with Spinal Muscular Atrophy SMA within MedStar Health

What this Trial Is About

This research aims to understand the diagnostic journey, patient experiences, and treatment disparities for adults with Spinal Muscular Atrophy SMA within the MedStar Health System. SMA is a genetic disorder that causes muscle weakness due to motor neuron loss. Although treatments like nusinersen, onasemnogene abeparvovec-xioi, and risdiplam have improved outcomes, many adults face challenges in diagnosis and accessing therapies, highlighting possible gaps in care and equity. The study has two phases. The first phase reviews medical records to analyze diagnosis timelines, genetic confirmation, treatment histories, and patient demographics. The second phase involves one-time telephone interviews lasting about 60 minutes with eligible adults to discuss their diagnostic experiences, understanding of SMA, access to treatments, barriers faced, and quality of care. Participants will be involved through medical record review and interviews, with up to 200 adults expected to join. Researchers will assess the proportion of SMA patients not receiving disease-modifying therapies and reasons for non-treatment based on survey responses. The study minimizes risks related to sharing personal health information through secure data handling and voluntary participation. Results aim to improve diagnosis and care strategies for adults with SMA, especially those underserved.

Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System