RT Journal Article
SR Electronic
T1 Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 929
OP 934
DO 10.1136/archdischild-2023-325762
VO 108
IS 11
A1 Xiao, Lena
A1 Kang, Sohee
A1 Djordjevic, Djurdja
A1 Gonorazky, Hernan
A1 Chiang, Jackie
A1 Ambreen, Munazzah
A1 Nigro, Elisa
A1 Law, Eugenia
A1 Weinstock, Lauren
A1 McCradden, Melissa
A1 Amin, Reshma
YR 2023
UL http://adc.bmj.com/content/108/11/929.abstract
AB 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.Data are available upon reasonable request. Any requests for raw data should be directed to the corresponding author.