OBJECTIVES : By establishing a core set of measures to be assessed and reported in a burden of illness (BOI) study we aim to improve the usefulness of future health research. The objective of this study was to inform data collection to assess the economic burden and disease-specific health-related quality of life (HRQOL) impact of Duchenne muscular dystrophy (DMD) in the United Kingdom (UK).

METHODS : First, we identified outcomes reported in previous research through a targeted review of the literature and gap analysis. Second, project HERCULES steering committee (SC) participants were invited to take part in a modified Delphi survey in which participants rated the importance of candidate measures. A two round modified Delphi process was followed, and at each round, participants rated an exhaustive list of outcomes on a five-point Likert scale. Participants also had the opportunity to leave comments and make suggestions for other measures to be included in the BOI study. In the second-round, participants were presented with anonymised results from the previous round and were then invited to revise their responses.

RESULTS : Each round was completed by 8 SC participants. SC participants consisted of parents of people with DMD, patient advocates, clinicians and other health professionals. Participants rated 182 research measures across 15 domains including prescribed treatments, consultations, hospitalisations, tests and procedures, transport, home improvements and patient-reported outcome measures. The highest median rated measures after the second round included fractures, adverse effects of corticosteroids and wheelchair use.

CONCLUSIONS : Our methodology presents a rigorous and pragmatic approach toward developing BOI studies. This study collated the views of the SC to produce a valid and robust set of research measures. The findings will inform a future BOI study to quantify the impact of DMD in the UK and to describe more comprehensively, the societal implications of DMD, not previously reported.