Presentation (CTI)

OBJECTIVES: Expanded reimbursement coverage has widened access to disease-modifying therapies (DMT) for spinal muscular atrophy (SMA) in China, but less is known about how adults live with SMA after treatment becomes more attainable. We sought to describe the adaptive trajectory of adults with SMA and to examine how clinicians support care across that trajectory.
METHODS: We undertook a qualitative study using grounded theory methods. Twelve adults with SMA and seven clinical experts involved in SMA care were recruited purposively to capture variation in motor function, treatment experience, and geography. Mandarin interviews were conducted remotely, audio recorded, and transcribed verbatim. Sampling, data collection, and constant comparative analysis continued iteratively until theoretical saturation.
RESULTS: Through open, axial, and selective coding, a primary patient framework (3 core categories, 7 sub-categories, 37 open codes) delineated a three-phase trajectory, triangulated by an supplementary physician perspectives (3 categories, 7 sub-categories, 33 codes) 1) Coexisting with the disease: Defined by multidimensional burden and prolonged diagnostic delays, driven by a complex interplay of patient-level navigation challenges and physician-level knowledge gaps in primary care. 2) Living with the disease: Improved DMT affordability drove active adaptation. Patients engaged in shared decision-making and evolved into proactive health managers, supplemented by physicians facilitating care continuity against structural constraints.3) Thriving with the disease: Priorities expanded toward reflective empowerment and social reciprocity. Patients articulated critical unmet needs for coordinated multidisciplinary care and inclusive social environments. Concurrently, physicians transitioned into systemic advocates, validating the necessity of comprehensive ecosystems to support long-term patient dignity.
CONCLUSIONS: Adult SMA care in China represents a transition from navigating early diagnostic vulnerability to sustaining proactive disease management and social integration. Optimizing long-term health outcomes requires moving beyond isolated pharmaceutical access toward integrated care models that enable adults with SMA need to live with agency and dignity.