PMID- 36214004
OWN - NLM
STAT- MEDLINE
DCOM- 20221115
LR  - 20221209
IS  - 2214-3602 (Electronic)
IS  - 2214-3599 (Print)
IS  - 2214-3599 (Linking)
VI  - 9
IP  - 6
DP  - 2022
TI  - Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
PG  - 713-730
LID - 10.3233/JND-210784 [doi]
AB  - 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.
FAU - Duong, Tina
AU  - Duong T
AD  - Department of Neurology, Division of Neuromuscular Medicine, Stanford University 
      School of Medicine, Palo Alto, CA, USA.
FAU - Kishnani, Priya S
AU  - Kishnani PS
AD  - Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
FAU - An Haack, Kristina
AU  - An Haack K
AD  - Sanofi, Chilly-Mazarin, France.
FAU - Foster, Meredith C
AU  - Foster MC
AD  - Sanofi, Cambridge, MA, USA.
FAU - Gibson, James B
AU  - Gibson JB
AD  - Clinical and Metabolic Genetics, Dell Children's Medical Group, Austin, TX, USA.
FAU - Wilson, Catherine
AU  - Wilson C
AD  - Sanofi, Cambridge, MA, USA.
FAU - Hahn, Si Houn
AU  - Hahn SH
AD  - Departments of Pediatrics and Medicine and Biochemical Genetics Program, Seattle 
      Children's Hospital/University of Washington, Seattle, WA, USA.
FAU - Hillman, Richard
AU  - Hillman R
AD  - University of Missouri Child Health, Columbia, MO, USA.
FAU - Kronn, David
AU  - Kronn D
AD  - Departments of Pathology and Pediatrics, New York Medical College, Valhalla, NY, 
      USA.
FAU - Leslie, Nancy D
AU  - Leslie ND
AD  - Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 
      Cincinnati, OH, USA.
FAU - Pena, Loren D M
AU  - Pena LDM
AD  - Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
AD  - Current address: Division of Human Genetics, Cincinnati Children's Hospital 
      Medical Center, Cincinnati, OH, USA.
AD  - Current address: University of Cincinnati College of Medicine, Cincinnati, OH, 
      USA.
FAU - Sparks, Susan E
AU  - Sparks SE
AD  - Sanofi, Cambridge, MA, USA.
FAU - Stockton, David W
AU  - Stockton DW
AD  - Division of Genetic, Genomic, and Metabolic Disorders, Central Michigan 
      University and Children's Hospital of Michigan, Detroit, MI, USA.
FAU - Tanpaiboon, Pranoot
AU  - Tanpaiboon P
AD  - Rare Disease Institute, Children's National Hospital, Washington, DC, USA.
AD  - Current address: Division of Medical Genetics, Child Health Research Center, 
      Torrance, CA, USA.
FAU - Day, John W
AU  - Day JW
AD  - Department of Neurology, Division of Neuromuscular Medicine, Stanford University 
      School of Medicine, Palo Alto, CA, USA.
CN  - Pompe ADVANCE Study Consortium
LA  - eng
SI  - ClinicalTrials.gov/NCT01526785
PT  - Journal Article
PL  - Netherlands
TA  - J Neuromuscul Dis
JT  - Journal of neuromuscular diseases
JID - 101649948
SB  - IM
MH  - Child
MH  - Humans
MH  - *Glycogen Storage Disease Type II/drug therapy
MH  - Enzyme Replacement Therapy
MH  - Cohort Studies
MH  - Motor Skills
PMC - PMC9697057
OTO - NOTNLM
OT  - Alglucosidase alfa
OT  - Gross Motor Function Classification System
OT  - Gross Motor Function Measure-88
OT  - Pompe Motor Function History
OT  - infantile-onset Pompe disease
OT  - late-onset Pompe disease
OT  - minimal detectable change
COIS- TD reports Pompe-disease-related honoraria from Sanofi (advisory boards within 
      and outside the scope of the study), membership of advisory boards for Roche, 
      Scholar Rock, Cure SMA, Cytokinetics, Biogen, Novartis, Bristol Myers Squibb, and 
      SMA Foundation, and service as a consultant for Roche, Audentes, Bristol Myers 
      Squibb, Novartis, Trinds, ATOM International, and Scholar Rock. PSK reports 
      grants from Amicus Therapeutics, Sanofi, and Valerion Therapeutics; consulting 
      fees and honoraria from Amicus Therapeutics, Asklepios BioPharmaceuticals 
      (AskBio), and Sanofi; membership of the Pompe and Gaucher Disease Registry 
      Advisory Boards for Amicus Therapeutics, Baebies, and Sanofi; and equity with 
      Asklepios BioPharmaceuticals (AskBio). JBG discloses study sponsorship and 
      professional writing assistance from Sanofi during the conduct of the study and 
      advisory board membership for Mallinckrodt Pharmaceuticals outside the submitted 
      work. SHH reports personal fees from Alexion, employment by Seattle Children's 
      Hospital, and personal fees and grants from Sanofi outside the submitted work. RH 
      has nothing to disclose. DK reports research funding from Sanofi and New York 
      Medical College during the conduct of the study and is on the Sanofi speakers' 
      bureau for Pompe disease. NDL reports personal fees (honoraria for advisory board 
      activities) and non-financial support (professional writing support) from Sanofi 
      during the conduct of the study and outside the submitted work. LDMP discloses 
      grant support and advisory board membership for AveXis, grant support from 
      Biogen, Ionis, and Sanofi, advisory board membership for Roche/Genentech, and 
      research support from Roivant, Inc. DWS is a member of the Sanofi Pompe Registry 
      Advisory Board outside the submitted work and discloses grant support from Sanofi 
      during the conduct of the study. PT discloses current employment by Quest 
      Diagnostics. KAH, SS, and MCF disclose being employees of Sanofi and may hold 
      stock and/or stock options in the company; CW discloses a contract with Sanofi 
      for consulting work during the conduct of the study and services as a consultant 
      for REGENXBIO. JWD reports personal fees from Audentes, grants from Ionis 
      Pharmaceuticals, and grants and personal fees from AveXis, Biogen, Cytokinetics, 
      Roche/Genentech, Sarepta, and Scholar Rock, outside the submitted work; he also 
      has a patent 7442782 with royalties paid to Athena Diagnostics.
EDAT- 2022/10/11 06:00
MHDA- 2022/11/16 06:00
PMCR- 2022/11/25
CRDT- 2022/10/10 04:42
PHST- 2022/10/11 06:00 [pubmed]
PHST- 2022/11/16 06:00 [medline]
PHST- 2022/10/10 04:42 [entrez]
PHST- 2022/11/25 00:00 [pmc-release]
AID - JND210784 [pii]
AID - 10.3233/JND-210784 [doi]
PST - ppublish
SO  - J Neuromuscul Dis. 2022;9(6):713-730. doi: 10.3233/JND-210784.