OBJECTIVES: Duchenne muscular dystrophy (DMD) is a rare progressive life-limiting genetic neuromuscular disorder. There is no cure, so interventions focus on maintaining or improving paediatric quality of life (QoL). Evidence suggests that existing preference-based measures (PBMs) may be inadequate for assessing QoL in DMD. Project HERCULES is developing a new PBM in DMD. This consists of three stages: 1) Concept elicitation; 2) Refining the descriptive system; and 3) Valuation. Here we describe the results of Stages 1 and 2a.

METHODS: In Stage 1, we undertook 18 semi-structured interviews with people with DMD of varying ages and clinical severity. We used Framework Analysis to identify themes and develop an initial descriptive system. In Stage 2a, cognitive debriefing interviews were undertaken with patients (n=10), parents (n=10), and clinicians (n=8) to refine the draft questionnaire.

RESULTS: In Stage 1, seven QoL domains were important in DMD, which included physical aspects, daily activities, identity, autonomy, healthcare and support, feelings and emotions, and social relationships. A draft 43-item questionnaire was developed. In Stage 2a, the draft questionnaire was refined following cognitive debriefing. This included an assessment of content validity, covering item wording, response options, and questionnaire instructions. This resulted in a 27-item draft measure to be tested quantitatively in a national psychometric survey (Stage 2b).

CONCLUSIONS: We have developed a draft 27-item questionnaire with high content validity for assessing QoL in people with DMD. Initial work highlighted challenges in research in a rare paediatric, life-limiting condition. Whilst there is support for a new PBM in this area, due to the subject matter, it can be difficult for some families to participate in qualitative interviews. There were differing views as to which items should be included in the new PBM. Final item selection for the new PBM will be informed by the psychometric survey.