Real-DMD: Baseline Findings From an Electronic Observer-Reported Outcome (OBSRO) Survey of Long-Term Real-World Experiences of Patients with Duchenne Muscular Dystrophy (DMD)
Author(s)
Patel S1, Yang M2, Tuttle E3, Martins B2, Yang F4, Gooch KL1, Filipovic Audhya I1
1Sarepta Therapeutics, Inc., Cambridge, MA, USA, 2Analysis Group, Inc., Boston, MA, USA, 3Analysis Group, Inc., Menlo Park, CA, USA, 4Analysis Group, Inc., London, UK
Presentation Documents
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.
Conference/Value in Health Info
Value in Health, Volume 27, Issue 6, S1 (June 2024)
Code
PCR44
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Rare & Orphan Diseases