OBJECTIVES: Spinal muscular atrophy (SMA) is a rare, neuromuscular condition that requires management from a variety of specialists, as well as equipment to support daily living. Previous studies have underestimated the full extent of healthcare cost and resource use (HCRU) by patients with SMA in the UK. The objective of this study was to elicit realistic HCRU inputs to inform a cost-effectiveness model for the health technology assessment (HTA) of a novel therapy in SMA, by seeking the perspective of SMA patient experts in the study design and interpretation.

METHODS: A modified Delphi panel was conducted to seek consensus on quantities and frequencies of HCRU in UK patients with SMA, including hospitalisations, specialist visits, tests and procedures, along with mobility, home, respiratory and feeding equipment. Two rounds of questionnaires were administered to 34 healthcare professionals (HCPs) actively treating patients with SMA in the UK, followed by a validation meeting amongst participants. Two experts from patient organisations, SMAUK and TreatSMA, provided direct input into the content and design of the questionnaire and reviewed the results to comment on their face validity from the patient perspective.

RESULTS: Input from patient experts in the questionnaire design enabled: a) comprehensive identification of relevant HCRU items; b) recognition of the need to stratify questions by SMA type and age group; and c) insight into complexity of care pathways beyond secondary care. Validation of the study results from a real-world patient perspective revealed a potential underestimation by HCPs of HCRU items commissioned in the community care setting.

CONCLUSIONS: Involvement of patient experts in the design of the modified Delphi panel enabled comprehensive capture of HCRU by patients with SMA in the UK for inclusion in the cost-effectiveness model. Inclusion of the patient perspective in real-world studies from start to finish facilitates the generation of robust evidence to inform HTA decision-making.