Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study.

Objective: Spinal muscular atrophy (SMA) is a neuromuscular disorder that manifests with motor deterioration and respiratory complications. The paradigm of care is shifting as disease-modifying therapies including nusinersen, onasemnogene abeparvovec and risdiplam alter the disease trajectory of SMA. The objective of this study was to explore caregivers' experiences with disease-modifying therapies for SMA.
Design: Qualitative study including semistructured interviews with caregivers of children with SMA who received disease-modifying therapies. Interviews were audio recorded, transcribed verbatim, coded and analysed using content analysis.
Setting: The Hospital for Sick Children (Toronto, Canada).
Results: Fifteen family caregivers of children with SMA type 1 (n=5), type 2 (n=5) and type 3 (n=5) participated. There were two emerging themes and several subthemes (in parentheses): (1) inequities in access to disease-modifying therapies (variable regulatory approvals, prohibitively expensive therapies and insufficient infrastructure) and (2) patient and family experience with disease-modifying therapies (decision making, hope, fear and uncertainty).
Conclusion: The caregiver experience with SMA has been transformed by the advent of disease-modifying therapies. Consistent and predictable access to disease-modifying therapies is a major concern for caregivers of children with SMA but is influenced by regulatory approvals, funding and eligibility criteria that are heterogenous across jurisdictions. Many caregivers described going to great lengths to access therapies, highlighting issues related to justice, such as equity and access. This diverse population reflects contemporary patients and families with SMA; their broad experiences may inform the healthcare delivery of other emerging orphan drugs.
Competing Interests: Competing interests: RA is a committee member of the American College of Chest Physicians and a paediatrics committee member of the American Thoracic Society, and holds research grants from Canadian Institutes of Health Research, Cure SMA Canada, Muscular Dystrophy Canada, VHA Home Healthcare, Boehringer-Ingelheim, Medigas, ProResp, Baxter Corporation Endowment Fund for Home Care, and Ontario Ministry of Health and Long-term Care. LX reported receiving research funding from The Hospital for Sick Children Clinician-Scientist Training Program, American Thoracic Society ASPIRE fellowship, Baxter Corporation Endowment Fund for Home Care, International Pediatric Sleep Association, and the Sleep Research Society Foundation during the conduct of the study.
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