LEOPARD-DMD: 12-Month Results from a 2-Year Natural History Study of Disease Burden in Duchenne Muscular Dystrophy

Topic:

Translational Research

Poster Number: 280 T

Author(s):

Preshetha Kanagaiah, BS, University of Rochester Center for Health + Technology, Jennifer Weinstein, MS, University of Rochester Center for Health + Technology, Christina Shupe, MPH, University of Rochester Center for Health + Technology, Charlotte Engebrecht, BS, University of Rochester Center for Health + Technology, Anika Varma, BS, University of Rochester School of Medicine and Dentistry, Spencer Rosero, BS, University of Rochester Center for Health + Technology, Charlotte Irwin, BS, University of Rochester Center for Health + Technology, Judith Monickaraj, MS, University of Rochester Center for Health + Technology, Karnavaal Al-Rubayie, MEng, University of Rochester Center for Health + Technology, Alicia Brocht, MS, University of Rochester Center for Health + Technology, Peggy Auinger, MS, University of Rochester Center for Health + Technology, Debra Guntrum, MS, FNP, University of Rochester Department of Neurology, Emma Ciafaloni, MD, FAAN, University of Rochester Medical Center, Rochester, NY, USA, Chad Heatwole, MD, University of Rochester

Introduction: To advance DMD therapeutic development, there is a need to better understand how disease burden changes overtime. The regulatory-grade caregiver-reported DMDCR-HI was previously developed and validated to quantify clinically-meaningful changes in DMD disease burden during therapeutic trials.

Objective: To conduct a 24-month, remote, longitudinal study with caregivers and individuals with DMD to evaluate how DMD disease burden changes overtime and identify factors associated with a faster or slower progression of disease.

Methods: Caregivers of individuals with DMD completed the DMDCR-HI and PedsQL at 6-month and 12-month time points. We analyzed the capability of the DMDCR-HI versus the PedsQL to detect progression in disease burden at 12 months.

Results: We enrolled 92 DMD caregivers (mean child age: 12.3 years (2 to 21)) at baseline. At 12 months, the DMDCR-HI subscales detected a progression in disease burden in the following areas: shoulder and arm function (10.46 points, p-value:0.0002), gastrointestinal health (9.48 points, p-value:0.0115), heart health (7.33 points, p-value:0.0256), activity participation (7.27 points, p-value:0.0085), mobility (6.94 points, p-value:0.0157), ambulation (6.83 points, p-value:0.0134), finger and hand function (6.29, p-value:0.0131), breathing (6.03 points, p-value: 0.0183), and core and truncal strength (5.20 points, p-value:0.05). In addition, the DMDCR-HI total score demonstrated a 5.15 point change over this period (p-value:0.0068). The PedsQL and its subscales did not demonstrate any change over 12 months. Participants are currently completing their 18-month assessments of this ongoing 24-month study.

Conclusions: Multifactorial symptomatic disease burden is progressive in DMD and can be detected and quantified using the DMDCR-HI in the context of a remote longitudinal clinical trial.

Funding: This research is being funded by the Muscular Dystrophy Association (MDA).