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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

Publication ,  Journal Article
Duong, T; Kishnani, PS; An Haack, K; Foster, MC; Gibson, JB; Wilson, C; Hahn, SH; Hillman, R; Kronn, D; Leslie, ND; Peña, LDM; Sparks, SE ...
Published in: J Neuromuscul Dis
2022

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. TRIAL REGISTRATION: ClinicalTrials.gov; NCT01526785; Registered 6 February 2012; https://clinicaltrials.gov/ct2/show/NCT01526785.

Duke Scholars

Published In

J Neuromuscul Dis

DOI

EISSN

2214-3602

Publication Date

2022

Volume

9

Issue

6

Start / End Page

713 / 730

Location

Netherlands

Related Subject Headings

  • Motor Skills
  • Humans
  • Glycogen Storage Disease Type II
  • Enzyme Replacement Therapy
  • Cohort Studies
  • Child
  • 3209 Neurosciences
 

Citation

APA
Chicago
ICMJE
MLA
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Duong, T., Kishnani, P. S., An Haack, K., Foster, M. C., Gibson, J. B., Wilson, C., … Pompe ADVANCE Study Consortium, . (2022). Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. J Neuromuscul Dis, 9(6), 713–730. https://doi.org/10.3233/JND-210784
Duong, Tina, Priya S. Kishnani, Kristina An Haack, Meredith C. Foster, James B. Gibson, Catherine Wilson, Si Houn Hahn, et al. “Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.J Neuromuscul Dis 9, no. 6 (2022): 713–30. https://doi.org/10.3233/JND-210784.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, et al. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. J Neuromuscul Dis. 2022;9(6):713–30.
Duong, Tina, et al. “Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.J Neuromuscul Dis, vol. 9, no. 6, 2022, pp. 713–30. Pubmed, doi:10.3233/JND-210784.
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW, Pompe ADVANCE Study Consortium. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. J Neuromuscul Dis. 2022;9(6):713–730.

Published In

J Neuromuscul Dis

DOI

EISSN

2214-3602

Publication Date

2022

Volume

9

Issue

6

Start / End Page

713 / 730

Location

Netherlands

Related Subject Headings

  • Motor Skills
  • Humans
  • Glycogen Storage Disease Type II
  • Enzyme Replacement Therapy
  • Cohort Studies
  • Child
  • 3209 Neurosciences