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

Proportion of SMA patients not receiving disease-modifying therapy and categorical causes for non-treatment based on structured patient/caregiver survey responses

The primary outcome assesses the percentage of patients with a confirmed diagnosis of spinal muscular atrophy (SMA) who are not currently receiving an FDA-approved disease-modifying therapy (nusinersen, risdiplam, or onasemnogene abeparvovec). Data are collected through a structured telephone or in-person survey using the Lost to Follow-Up Interview Questionnaire, designed to identify categorical reasons for non-treatment. Categories include insurance or financial barriers, clinical contraindications, patient preference, adverse effects, loss to follow-up, or access limitations. The outcome will quantify the proportion of patients in each category to identify predominant causes of non-treatment and guide future outreach and care re-engagement strategies. Unit of Measure: Percentage of participants.