Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.
6 min walking test (6MWT)
cardiopulmonary exercise testing (CPET)
enzyme replacement therapy (ERT)
infantile-onset Pompe disease (IOPD)
oxygen uptake at the peak of exercise (peak VO2)
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
28 Oct 2021
28 Oct 2021
Historique:
received:
27
08
2021
revised:
11
10
2021
accepted:
22
10
2021
entrez:
27
11
2021
pubmed:
28
11
2021
medline:
28
11
2021
Statut:
epublish
Résumé
Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patients with infantile-onset Pompe disease (IOPD). However, a progressive decline has been reported. Objective quantification of the response to ERT when assessing newer strategies is warranted. This combined retrospective-prospective study assessed the acute and long-term effects of ERT on exercise in IOPD patients. Evaluation included cardiopulmonary exercise testing (CPET), 6-min walking test (6MWT), spirometry, motor function test (GMFM-88) and enzyme blood levels. Thirty-four CPETs (17 pre- and 17 two days-post ERT) over variable follow-up periods were performed in four patients. Two days following ERT, blood enzyme levels increased (median, 1.22 and 10.15 μmol/L/h ( The peak VO
Sections du résumé
BACKGROUND
BACKGROUND
Enzyme replacement therapy (ERT) with alglucosidase alfa improves the prospect of patients with infantile-onset Pompe disease (IOPD). However, a progressive decline has been reported. Objective quantification of the response to ERT when assessing newer strategies is warranted.
METHODS
METHODS
This combined retrospective-prospective study assessed the acute and long-term effects of ERT on exercise in IOPD patients. Evaluation included cardiopulmonary exercise testing (CPET), 6-min walking test (6MWT), spirometry, motor function test (GMFM-88) and enzyme blood levels.
RESULTS
RESULTS
Thirty-four CPETs (17 pre- and 17 two days-post ERT) over variable follow-up periods were performed in four patients. Two days following ERT, blood enzyme levels increased (median, 1.22 and 10.15 μmol/L/h (
CONCLUSIONS
CONCLUSIONS
The peak VO
Identifiants
pubmed: 34834457
pii: jpm11111105
doi: 10.3390/jpm11111105
pmc: PMC8625342
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Sanofi Genzyme
ID : Investigator's initiated grant
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