Evaluating Functional Changes and Outcome Measure Responsiveness in Limb Girdle Muscular Dystrophy: A 12-month Analysis of the 10-meter Run Time, NSAD, and PUL
Roshni Patel1, Lindsay Alfano2, Tahseen Mozaffar3, Katherine Mathews4, Conrad Weihl5, Jeffrey Statland6, Doris Leung7, Peter Kang8, Zineb Ammous9, Stacy Dixon10, Jordi Diaz-Manera11, S Subramony12, Matthew Wicklund13, Nicholas Johnson14, Michael Kiefer14
1Virginia Commonwealth University School of Medicine, 2Nationwide Children'S Hospital, 3University of California Irvine, 4University of Iowa - Dept of Pediatrics, 5Washington University in St. Louis, 6University of Kansas Medical Center, 7Kennedy Krieger Institute, 8University of Minnesota Medical School, 9Indiana Community Health Clinic, 10University of Colorado, 11Newcastle University, 12University of Florida, 13UT Health San Antonio, 14Virginia Commonwealth University
Objective:
Evaluate the relationship between changes in patient-reported and functional outcome measures in patients with limb girdle muscular dystrophies (LGMD).
Background:
Several clinical assessments have been validated in LGMD, supporting their use as potential therapeutic endpoints. However, understanding the relationship between patient-reported and functional outcomes is essential for interpreting the clinical meaningfulness of change. This study evaluates the relationship between patient-reported and functional outcome measure changes across multiple assessments in individuals with LGMD.
Design/Methods:
Patients with genetically confirmed LGMD (n=86) completed functional assessments including the NorthStar Ambulatory Assessment (NSAD), Performance of Upper Limb (PUL), and 10-meter run, in addition to reported outcome measures including the Limb-Girdle Muscular Dystrophy Health Index (LGMD-HI). Patients were classified as improved/stable or declined based on change in reported outcomes between baseline and 12 months. Mean changes in functional outcomes based on patient-report grouping were then evaluated.
Results:
86 patients (31 LGMDR9, 24 LGMDR1, 10 LGMDR12, 7 LGMDD1, 3 LGMDR2, 7 LGMDR3, 4 LGMDR5; mean age 31.7 years, range 6-64) completed baseline and 12-month visits. Mean 12-month change in the cohort was 1.9-point decrease on the NSAD, 1.4-point decrease on the PUL, and 0.6-second increase in 10 meter run time. Preliminary analysis of participants reporting decline on LGMD-HI item “limited mobility” at 12 months showed a 0.6-second increase in 10m run time and a 2.0-point decrease on the NSAD. In those reporting decline on LGMD-HI item “problems in shoulders/arms,” at 12 months, mean PUL decreased by 0.5 points.
Conclusions:
Several clinical outcome measures detect decline in motor function over 12 months in LGMD. Patient perception of decline is associated with clinically observed change. These findings provide initial evidence of the magnitude of change in functional outcome measures that is meaningful to patients.
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