Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Catherine Brunel-Guitton; Georges-Etienne Rivard; Jacques Galipeau; Nathalie Alos; Marie-Claude Miron; Roxane Therrien; Grant Mitchell; Guy Lapierre; Marie Lambert

doi:10.1016/j.ymgme.2008.11.158

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Mol Genet Metab. 2009 Feb;96(2):73-6. doi: 10.1016/j.ymgme.2008.11.158. Epub 2008 Dec 10.

Authors

Catherine Brunel-Guitton¹, Georges-Etienne Rivard, Jacques Galipeau, Nathalie Alos, Marie-Claude Miron, Roxane Therrien, Grant Mitchell, Guy Lapierre, Marie Lambert

Affiliation

¹ Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Que. H3T1C5, Canada.

PMID: 19083253
DOI: 10.1016/j.ymgme.2008.11.158

Abstract

Introduction: No consensus exists on the minimal dose of enzyme replacement therapy (ERT) effective to maintain therapeutic goals in pediatric Gaucher patients.

Objective: Evaluate the efficacy of low dosage ERT to maintain treatment goals.

Results: Six patients had a maintenance dose of 30-35U/kg/month. All patients, with the exception of one L444P/L444P homozygote, maintained therapeutic goals.

Discussion: A low maintenance dose may be adequate in most pediatric patients. L444P homozygotes may require a higher maintenance dosage.

MeSH terms

Child
Child, Preschool
Female
Gaucher Disease / drug therapy*
Gaucher Disease / genetics
Glucosylceramidase / genetics
Glucosylceramidase / therapeutic use*
Humans
Infant
Male

Substances

Glucosylceramidase