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Abstract
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.
- paediatrics
- neurology
- qualitative research
Data availability statement
Data are available upon reasonable request. Any requests for raw data should be directed to the corresponding author.
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Data availability statement
Data are available upon reasonable request. Any requests for raw data should be directed to the corresponding author.
Footnotes
Presented at This work was presented at the American Thoracic Society 2023 Annual Conference in May 2023.
Contributors RA conceptualised and designed the study, analysed the data, and critically reviewed and revised the manuscript. RA is the guarantor and accepts full responsibility for the finished work and the conduct of the study, had access to the data, and controlled the decision to publish. LX conceptualised and designed the study, analysed the data, drafted the initial manuscript, and critically reviewed and revised the manuscript. SK analysed the data, drafted the initial manuscript, and critically reviewed and revised the manuscript. DD and MM analysed the data and revised the manuscript. MA collected the data and critically reviewed and revised the manuscript. HG, JC, EN, EL and LW critically reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.
Funding This work was supported by Cure SMA Canada.
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.
Provenance and peer review Not commissioned; externally peer reviewed.
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