Objective: To understand patient, caregiver, and clinician perspectives on patient-reported outcome measures, critical functional domains, and disease-modifying therapies in adult spinal muscular atrophy.
Design: An exploratory qualitative single-site study.
Patients: Ten adults with spinal muscular atrophy and two clinicians participated in semi-structured interviews.
Methods: Semi-structured interviews were conducted virtually or in person with participants after they completed outcome measures at a routine clinic visit. Two researchers analysed transcripts concurrently using a thematic approach to determine themes.
Results: Ten themes were identified among partici-pants. Patient-reported outcome measure preference varied between functional groups and was under-responsive, although it captured meaningful data. Motor stability was most frequently expected with disease-modifying therapy, but participants also reported improved fatigue and respiratory status.
Conclusion: After considering patient goals, functional status, and preferences, patient-reported outcome measures represent a valuable adjunct to standard clinical and research tools. Optimal selection of patient-reported outcome measures requires careful consideration of multiple patient factors. Collaborative development of modified patient-reported outcome measures may yield a responsive, meaningful, and acceptable tool that can be used across a broad functional spectrum.