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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Duong, Tina; Kishnani, Priya S; An Haack, Kristina; Foster, Meredith C; Gibson, James B; Wilson, Catherine; Hahn, Si Houn; Hillman, Richard; Kronn, David; Leslie, Nancy D; Peña, Loren D M; Sparks, Susan E; Stockton, David W; Tanpaiboon, Pranoot; Day, John W.
Afiliação
  • Duong T; Department of Neurology, Division of Neuromuscular Medicine, Stanford University School of Medicine, Palo Alto, CA, USA.
  • Kishnani PS; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • An Haack K; Sanofi, Chilly-Mazarin, France.
  • Foster MC; Sanofi, Cambridge, MA, USA.
  • Gibson JB; Clinical and Metabolic Genetics, Dell Children's Medical Group, Austin, TX, USA.
  • Wilson C; Sanofi, Cambridge, MA, USA.
  • Hahn SH; Departments of Pediatrics and Medicine and Biochemical Genetics Program, Seattle Children's Hospital/University of Washington, Seattle, WA, USA.
  • Hillman R; University of Missouri Child Health, Columbia, MO, USA.
  • Kronn D; Departments of Pathology and Pediatrics, New York Medical College, Valhalla, NY, USA.
  • Leslie ND; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Peña LDM; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
  • Sparks SE; Current address: Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Stockton DW; Current address: University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Tanpaiboon P; Sanofi, Cambridge, MA, USA.
  • Day JW; Division of Genetic, Genomic, and Metabolic Disorders, Central Michigan University and Children's Hospital of Michigan, Detroit, MI, USA.
J Neuromuscul Dis ; 9(6): 713-730, 2022.
Article em En | MEDLINE | ID: mdl-36214004
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article