Mobility and Upper Extremity Function in Duchenne Muscular Dystrophy: A Longitudinal Survey Using PROMIS
Author(s)
Ivana Audhya, MS1, Shelagh Szabo, MSc2, Ania Filus, PhD1, Evelyn Griffin, BSc2, Pramoda Jayasinghe, MSc2, David Feeny, PhD3, Daniel Malone, PhD4, Peter Neumann, ScD5, Susan Iannaccone, MD6, Katherine L. Gooch, PhD1.
1Sarepta Therapeutics, Cambridge, MA, USA, 2Broadstreet HEOR, Vancouver, BC, Canada, 3McMaster University, Hamilton, ON, Canada, 4University of Utah, Salt Lake City, UT, USA, 5Tufts Medical Center, Boston, MA, USA, 6UT Southwestern, Dallas, TX, USA.
1Sarepta Therapeutics, Cambridge, MA, USA, 2Broadstreet HEOR, Vancouver, BC, Canada, 3McMaster University, Hamilton, ON, Canada, 4University of Utah, Salt Lake City, UT, USA, 5Tufts Medical Center, Boston, MA, USA, 6UT Southwestern, Dallas, TX, USA.
OBJECTIVES: The progression of Duchenne muscular dystrophy (DMD) is characterized by loss of lower and upper extremity function. However, real-world data are limited. Measures like the Patient-Reported Outcomes Measurement Information System (PROMIS) can document function from the patient perspective. The objective was to describe changes in PROMIS Parent Proxy (PP) Mobility and Upper Extremity scores over time in patients with DMD.
METHODS: Caregivers of individuals with DMD (n=100) completed the PROMIS PP Mobility and Upper Extremity Short-Form questionnaires at baseline and month 36. Mobility questions were completed for ambulatory patients only. ‘Mean raw’ scores (with standard deviation [SD]) were calculated by summing the short-form responses and dividing by the number of non-missing items in the domain; these were presented by baseline health state (early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory). Linear regression was used to analyze change in scores over 36 months, adjusted for baseline PROMIS score, age, and medication use.
RESULTS: At baseline, mean patient age was 12.6 years, and 45% were in the early ambulatory state. Baseline PROMIS PP Mobility mean raw (SD) scores were 3.3 (0.8; early ambulatory) and 2.4 (0.5; late ambulatory). Statistically significant declines (P<0.001) over 36 months were observed in the early ambulatory (−0.5; standard error [SE]=0.1) and late ambulatory (−0.7; SE=0.2) states. Baseline PROMIS PP Upper Extremity scores ranged from 3.1 (1.0; early ambulatory) to 1.1 (0.1; late non-ambulatory). Significant declines in Upper Extremity function over 36 months were noted for the early non-ambulatory state only (−0.9; SE=0.2, P<0.001).
CONCLUSIONS: Mobility and upper limb impairments manifest early in the DMD course, increasing as health states deteriorate, as evidenced by a decrease in PROMIS scores. Significant declines in PROMIS scores occurred in these DMD patients over 36 months.
METHODS: Caregivers of individuals with DMD (n=100) completed the PROMIS PP Mobility and Upper Extremity Short-Form questionnaires at baseline and month 36. Mobility questions were completed for ambulatory patients only. ‘Mean raw’ scores (with standard deviation [SD]) were calculated by summing the short-form responses and dividing by the number of non-missing items in the domain; these were presented by baseline health state (early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory). Linear regression was used to analyze change in scores over 36 months, adjusted for baseline PROMIS score, age, and medication use.
RESULTS: At baseline, mean patient age was 12.6 years, and 45% were in the early ambulatory state. Baseline PROMIS PP Mobility mean raw (SD) scores were 3.3 (0.8; early ambulatory) and 2.4 (0.5; late ambulatory). Statistically significant declines (P<0.001) over 36 months were observed in the early ambulatory (−0.5; standard error [SE]=0.1) and late ambulatory (−0.7; SE=0.2) states. Baseline PROMIS PP Upper Extremity scores ranged from 3.1 (1.0; early ambulatory) to 1.1 (0.1; late non-ambulatory). Significant declines in Upper Extremity function over 36 months were noted for the early non-ambulatory state only (−0.9; SE=0.2, P<0.001).
CONCLUSIONS: Mobility and upper limb impairments manifest early in the DMD course, increasing as health states deteriorate, as evidenced by a decrease in PROMIS scores. Significant declines in PROMIS scores occurred in these DMD patients over 36 months.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
PCR161
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Pediatrics, Rare & Orphan Diseases