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


CONCLUSIONS
A low maintenance dose may be adequate in most pediatric patients. L444P homozygotes may require a higher maintenance dosage.
Brunel-Guitton
Catherine
C
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Que. H3T1C5, Canada.
Rivard
Georges-Etienne
GE
Galipeau
Jacques
J
Alos
Nathalie
N
Miron
Marie-Claude
MC
Therrien
Roxane
R
Mitchell
Grant
G
Lapierre
Guy
G
Lambert
Marie
M
D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male
D005962:Glucosylceramidase