The burden-of-illness of Duchenne muscular dystrophy in the US



Poster Number: T332


Diana Castro, MD, Neurology & Neuromuscular Care Center, Jonathan Evans, BSc, MSc, Prime HCD, Cheryl Jones, PhD, Prime HCD, Yunchou Wu, PhD, Prime HCD, Emily Reuben, Duchenne UK, Sally Hofmeister, World Duchenne Organization and Duchenne Data Foundation, Ialina Vinci, MD, Parent Project aps, Jamie Hale, Pathfinders Neuromuscular Alliance, Victoria Selby, PhD, Great Ormond Street Hospital, Rachel Schrader, APRN, Parent project muscular dystrophy (PPMD), Nate Posner, MPH, Pfizer, Inc., Valeria Merla, MPH, Pfizer, Katherine Beaverson, MS, Pfizer, Jose Maria Jimenez Alvir, DrPH, Pfizer

BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, genetic disorder associated with progressive muscle degeneration.
OBJECTIVES: This burden-of-illness (BOI) study aimed to quantify the real-world burden and health-related quality of life (HRQoL) impact of DMD among patients in the United States (US). The results were stratified by severity and categorised by eight progressive disease stages (DS) based on Project Hercules. Demographic, clinical, and healthcare resource utilisation data (HCRU) were captured by the physician using an electronic case report form (eCRF) with HCRU data captured retrospectively over the last 12 months. HRQoL, measured by the EQ-5D, was captured on the day of study enrolment for patients using the Patient Public Involvement and Engagement form (PPIE).
RESULTS: Physicians completed a total of 284 eCRFs in the US, with 171 matching patient PPIE forms. The mean age of the sample was 12.2 years (±8.5) and the mean age of diagnosis was 5.7 years (±5.0). Patient distribution across all disease stages (DS) were 107 (37%) in the ambulatory DS (1 & 2), 35 (12%) in the transfers DS (3), and 142 (50%) in the non-ambulatory DS (4-8). Over the past 12 months, the mean number of consultations with managing physicians and physiotherapists (the next most frequently visited healthcare professional) was 3.4 (±1.3) and 2.9 (±7.0) per patient. Current corticosteroid use was reported by 34% of patients. Seventy-six percent of patients reported non-corticosteroid use with a mean number of non-corticosteroids of 2.8 (±1.9). Overall, patient HRQoL, as measured by the EQ-5D, continuously decreased as disease severity, captured by the 8-stage disease model, increased.
CONCLUSIONS: Preliminary results from this study indicate DMD has a substantial impact on both the healthcare system and HRQoL. Future work will focus on estimating the total cost burden of DMD to patients and the healthcare system in the US.