OBJECTIVES: Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease which results in muscle atrophy and weakness. The progression of this disease leads to a high degree of disability and resultant high caregiving burden for carers. This research investigated whether there is consensus regarding the inclusion of carer burden in National Institute for Health and Care Excellence (NICE) health technology assessment (HTA) submissions of interventions for SMA.

METHODS: Technology appraisals (TAs) and highly specialised technologies (HSTs) in SMA published from the inception of NICE until 5^th June 2024 were reviewed. Final appraisal documents and committee papers were obtained and searched for the keywords ‘carer’, ‘caregiver’, ‘family’, and ‘informal care’. TAs and HSTs in which carer health-related quality of life (HRQoL) was considered were included.

RESULTS: NICE have published 4 recommendations in SMA: 2 TAs and 2 HSTs. Of these, three modelled carer HRQoL using cost-utility analyses (CUAs) and qualitative evidence, while one (HST24) only submitted qualitative evidence. The CUA analysis was accepted in the committee base-case of TA588 and TA755; in HST15, only qualitative evidence was accepted for decision-making. The approach to modelling carer HRQoL impact in SMA HTAs varies: utility gained by patient health state and utility lost by patient health state have both been considered, with or without bereavement disutility, with a range of 1-3 carers. Two utility data sources were used as evidence across the three submissions.

CONCLUSIONS: Although NICE committees have recognised that SMA has a demonstrable impact on the HRQoL of carers, there is a lack of consensus regarding the quantitative consideration of carer HRQoL in the disease due to a paucity of data and the lack of a robust methodology for modelling the direct impact on cost-effectiveness. Nevertheless, qualitative evidence on the caregiving burden of SMA is likely to be accepted.