Ruthwik Duvuru, Eric Camino, Rachel Schrader, Megan Freed, James Signorovitch, Jia Zhong, Shimin Bi, Susan J Ward, Aravindhan Veerapandiyan
BackgroundClinical decision-making, disease progression monitoring, and evaluation of novel therapies for patients with Duchenne muscular dystrophy (DMD) rely on functional assessments. This study aimed to evaluate the use of functional assessments in routine DMD care and identify challenges encountered in their administration and documentation.MethodsA cross-sectional online survey was conducted in 2023 among 36 Certified Duchenne Care Centers (CDCCs) in the United States. Center directors collaborated with multidisciplinary teams to provide single response per center. The survey encompassed functional assessments for ambulatory and non-ambulatory patients, milestones definitions, documentation practices, and perceived barriers.ResultsTwenty-three CDCCs responded to the survey. Nearly half of the centers cared for up to 200 patients with DMD in the previous year, and all used electronic health record systems. Functional assessments were routinely conducted for both ambulatory and non-ambulatory patients, though variability was observed in assessment implementation, standardization procedures, training practices, documentation, and milestone definitions. Consistent use of assessments was reported in ambulatory patients; however, the extent of formal training and use of documented standard operating procedures varied across centers. Definitions of loss of ambulation were heterogeneous and often depended on the assessor's judgment. The most frequently reported barriers to conducting and documenting functional assessments included limited clinic time, insufficient staff hours, patient and caregiver burden, lack of convenient data-entry tools, and the time required for documentation.ConclusionsThe study provides an overview of functional assessment practices at CDCCs and identifies important opportunities to harmonize assessment implementation, documentation, and milestone definitions across centers.