Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

Tina Duong, Priya S. Kishnani, Kristina An Haack, Meredith C. Foster, James B. Gibson, Catherine Wilson, Si Houn Hahn, Richard Hillman, David Kronn, Nancy D. Leslie, Loren D.M. Peña, Susan E. Sparks, David W. Stockton, Pranoot Tanpaiboon, John W. Day

Research output: Contribution to journalArticlepeer-review

Abstract

Background: ADVANCE (NCT01526785) presented an opportunity to obtain a more nuanced understanding of motor function changes in treatment-experienced children with Pompe disease receiving 4000L-production-scale alglucosidase alfa for 52 weeks. Objective: To estimate minimal detectable change (MDC) and effect size on Gross Motor Function Measure-88 (GMFM-88) after 52 weeks of 4000L alglucosidase alfa (complete data N = 90). Methods: The GMFM-88 mean total % score changes, MDC, and effect size were analyzed post hoc by Pompe Motor Function Level at enrollment, age groups at enrollment, and fraction of life on pre-study 160L-production-scale alglucosidase alfa. Results: Overall, participants aged < 2 years surpassed MDC at Week 52 (change [mean±standard deviation] 21.1±14.1, MDC range 5.7-13.3, effect size 1.1), whereas participants aged≥2 years did not attain this (change -0.9±15.3, MDC range 10.8-25.2, effect size -0.03). In participants aged < 2 years, improvements surpassed the MDC for walkers (change 17.1±13.3, MDC range 3.0-6.9, effect size 1.7), supported standers (change 35.2±18.0, MDC range 5.9-13.7, effect size 1.8) and sitters (change 24.1±12.1, MDC range 2.6-6.2, effect size 2.7). Age-independent MDC ranges were only attained by walkers (change 7.7±12.3, MDC range 6.4-15.0, effect size 0.4) and sitters (change 9.9±17.2, MDC range 3.3-7.7, effect size 0.9). Conclusions: These first GMFM-88 minimal-detectable-change estimates for alglucosidase alfa-treated Pompe disease offer utility for monitoring motor skills.

Original languageEnglish
Pages (from-to)713-730
Number of pages18
JournalJournal of neuromuscular diseases
Volume9
Issue number6
DOIs
StatePublished - 2022

Keywords

  • Alglucosidase alfa
  • Gross Motor Function Classification System
  • Gross Motor Function Measure-88
  • Pompe Motor Function History
  • infantile-onset Pompe disease
  • late-onset Pompe disease
  • minimal detectable change

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