Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease.
OBJECTIVE
To study the long-term effects of enzyme replacement therapy on the neurological signs of chronic neuronopathic Gaucher disease and to evaluate some biochemical parameters for monitoring the treatment.


METHODS
Eight patients from the Norrbottnian cohort were followed during 10 y of treatment. They were followed with regular clinical observations, biochemical tests and psychometric testing.


RESULTS
After the start of treatment, their general well-being improved and was stable during the follow-up. In three of the patients there were some indications of slow neurological deterioration. The mean results of psychometric testing did not decrease. Glucosylceramide and chitotriosidase levels were useful in monitoring the treatment. The chemokine CCL18 also seems to be a useful parameter for future monitoring.


CONCLUSIONS
Enzyme replacement therapy seems to slow down further neurological and mental deterioration in mild chronic neuronopathic (type 3) Gaucher disease.
Erikson
Anders
A
Department of Paediatrics, Umeå University, Umeå, Sweden. anders.erikson.us@vll.se
Forsberg
Håkan
H
Nilsson
Magnus
M
Aström
Marianne
M
Månsson
Jan-Eric
JE
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D001927:Brain Diseases / Q000209:etiology*; D019742:Chemokines, CC / Q000097:blood; D002675:Child, Preschool; D015331:Cohort Studies; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000150:complications* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage*; D005963:Glucosylceramides / Q000097:blood; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008297:Male; D016896:Treatment Outcome
D015415:Biomarkers; C111792:CCL18 protein, human; D019742:Chemokines, CC; D005963:Glucosylceramides; C070292:alglucerase; D006596:Hexosaminidases; C086400:chitotriosidase; D005962:Glucosylceramidase; C090568:imiglucerase