Presentation (CTI)

OBJECTIVES: Duchenne Muscular Dystrophy (DMD) is a rare, progressive, neuromuscular disease characterized by loss of ambulation occurring in late adolescence. Generally, DMD clinical trials are focused on improving muscular function measured with performance-based outcome assessments (PerfROs). A challenge for score interpretation of functional tests is translating changes into concepts meaningful to patients. Recent qualitative studies with DMD patients and their caregivers have found that concepts distal to muscular function (e.g. related to ability to perform activities of daily living) are important across ambulation status. The objective of this review was to examine the inclusion of patient-reported outcome (PRO) measures in DMD clinical trials and if they capture concepts important to patients.
METHODS: ClinicialTrials.gov was searched for DMD clinical studies (interventional, natural history/ observational, and behavioral/ psychosocial) from January 1, 2019 through October 21, 2024. The initial search returned 164 results; 10 studies were excluded because participants did not have DMD. Of the 154 studies reviewed, 75 (48.7%) were interventional drug/ gene therapy clinical trials.
RESULTS: Thirty-three studies included both ambulatory and non-ambulatory participants, 32 studies were limited to ambulatory participants, 7 studies focused on non-ambulatory participants, and 3 studies included infant and toddler participants who were pre-ambulatory (too young to walk) or early ambulatory. Only 5 studies incorporated patient-centered endpoints: 3 studies measured quality of life using generic measures and 2 assessed self-reported mobility.
CONCLUSIONS: Most endpoints in DMD clinical trials focus on changes in muscular function measured with PerfROs and few trials in the past five years have incorporated patient-centered endpoints. To better incorporate the patient voice and understand how changes in muscular function translate to meaningful changes, patient-centered endpoints should include and guided by result from qualitative studies in DMD patients.