Exploring the Content Validity of Patient-Reported Outcome Measures to Capture the Patient Experience of Becker...

The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient-reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of PRO measures in this population.

Semi-structured interviews were conducted with ambulatory adult and adolescent US-based participants with BMD. Transcripts were analyzed using content and framework analysis. Participant quotes were coded to identify concepts and themes, illustrated in a conceptual model of BMD experience. Cognitive debriefing methods assessed patient understanding of the brief pain inventory-short form (BPI-SF), quality of life in neurological disorders (Neuro-QoL), and three patient-reported outcomes measurement information system (PROMIS-57) domains: Physical Function, Fatigue, and Pain Interference.

Twenty-nine patients (mean age: 27.0 years; mean age at BMD diagnosis: 15.1 years) and two caregivers described a wide range of signs, symptoms, and impacts. Physical fatigue, pain, weakness, and impacts on physical mobility and emotional wellbeing were considered most bothersome. The BPI-SF Item 3 and PROMIS-57 domains were well understood and relevant; however, the Neuro-QoL Upper Extremity questionnaire demonstrated low conceptual relevance.

The conceptual model illustrated the burden of living with BMD. The BPI-SF Item 3 and evaluated PROMIS-57 domains are considered content-valid PRO measures in BMD, with most participants associating score improvements with meaningful changes to their health-related quality of life.