OBJECTIVES: DMD is a rare, debilitating neuromuscular disease leading to muscle weakness and functional decline, primarily affecting young males. Due to early onset and progressive nature, caregivers play a crucial role in assessing and relaying information about patients’ health, including their clinical status and functional ability. REAL-DMD, an observational, prospective, longitudinal cohort study involving caregivers of ambulatory DMD patients, aims to generate real-world data on caregiver-reported patient function and experiences. Patient baseline characteristics and functional ability are reported.

METHODS: US caregivers recruited through patient advocacy groups (Parent Project Muscular Dystrophy; The Akari Foundation) completed a web-based survey and reported patient function using proxy versions of Patient-Reported Outcome Measurement Information (PROMIS®) Mobility, Upper Extremity, and Fatigue. Patients’ clinical characteristics, treatments, functionality, and Caregiver Global Impression of Severity were also collected.

RESULTS: Of the 137 patients, mean±SD age was 9.6±4.7 years; age at diagnosis was 3.9±2.4 years. Common mutations included large deletions (53.3%). Common comorbidities were anxiety (35.8%), learning disabilities (33.6%), attention-deficit/hyperactivity disorder (28.5%), behavioral disorders (27.7%), constipation (27.7%), history of falls (27.0%), and stunted growth (27.0%). Most patients were treated with corticosteroids alone (67.2%), and 19.0% with dystrophin replacement therapies. Almost all patients had moderate/severe limitations in mobility (94.2%; PROMIS T-Score: 30.9±6.7) and upper extremity function (94.9%; 28.6±7.5), and the majority had moderate/severe fatigue (66.4%; 58.2±9.5); 29.2% were unable to climb 4 steps, 23.4% unable to rise from floor, and 10.2% unable to walk 10 yards. Caregiver-rated severity of patients’ symptoms, physical ability, and overall health was moderate/severe/very severe in most patients (54.7%, 55.5%, 56.2%, respectively); 49.6% had at least moderate impairment to daily activities.

CONCLUSIONS: REAL-DMD baseline data provide insights into real-world characteristics and functional ability of ambulatory DMD patients. Findings indicate moderate to severe functional impairments among this patient population. Follow-up surveys will longitudinally characterize functional changes as disease progresses.