Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.
CK, creatine kinase
CRIM, cross-reactive immunological material
Dosage
ERT, enzyme replacement therapy
Early treatment
Enzyme replacement therapy
GAA, acid alpha-glucosidase
GMFM, Gross Motor Function Measure
IOPD, infantile-onset PD
ITI, immune tolerance induction
NBS, newborn screening
Newborn screening
PD, Pompe disease
PDMS-2, Peabody Developmental Motor Scale, Second Edition
Pompe disease
uGlc4, urine glucose tetrasaccharide
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
20
04
2020
entrez:
7
5
2020
pubmed:
7
5
2020
medline:
7
5
2020
Statut:
epublish
Résumé
Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity, age at first treatment, dosage, and dosing regimens. We report the clinical and biochemical outcomes of a cohort of IOPD patients identified through newborn screening, and evaluating the dosage effect. A retrospective observational study was designed to describe the long-term clinical and biochemical outcomes of a uniform cohort of IOPD patients who have been treated with high-dosage of ERT. Twenty-eight patients received alglucosidase alpha at either the labeled dosage followed by a high dosage ( Low CK and uGlc4 levels were correlated with favorable response to ERT in IOPD patients, although CK may be more fluctuated than uGlc4. High-dose ERT instituted immediately at newborn screening seems to give the best outcome, and a dosage increase is necessary upon - or, even better, before - a rise in biomarker levels.
Identifiants
pubmed: 32373469
doi: 10.1016/j.ymgmr.2020.100591
pii: S2214-4269(20)30037-9
pii: 100591
pmc: PMC7193123
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100591Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
Yin-Hsiu Chien has served on advisory boards for Amicus Therapeutics and Sanofi Genzyme, undertaken contracted research for Sanofi Genzyme, received honoraria, consulting fees, and travel expenses from Sanofi Genzyme. Wuh-Liang Hwu has served on advisory boards for Audentes and Sanofi Genzyme, undertaken contracted research for Sanofi Genzyme, received honoraria, consulting fees, and travel expenses from Sanofi Genzyme. Ni-Chung Lee has served on Registry advisory boards for Sanofi Genzyme, received honoraria and travel expenses from Sanofi Genzyme. Wen-Hui Tsai has served as a site principal investigator for the Rare Disease Registry Program and received honoraria and travel expenses from Sanofi Genzyme. Chaw-Liang Chang, Pao-Chin Chiu, Fuu-Jen Tsai, Yen-Yin Chou, and Siew-Lee Wong declare no conflict of interest.
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