title: The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy.
abstract: Enzyme replacement therapy is now well established as the treatment of choice in Type I Gaucher disease. Historically higher dosage regimens have been used in preference to lower doses despite the little clinical evidence in the way of large controlled clinical trials to support this. Moreover, the extraordinary cost of therapy means that not all eligible patients are able to be treated at the higher dose. Twelve type I adult patients with relatively severe disease were commenced on a very low dose of 7.5U of alglucerase/imiglucerase per kg every two weeks (initially given thrice weekly and later weekly). Follow-up 5 year data reveal a good visceral and haematological response with outcomes consistent with recently published treatment guidelines. Satisfactory clinical and radiological skeletal improvement was also demonstrated in most patients. Three patients had an inadequate overall skeletal response to therapy. Biomarkers also steadily improved although perhaps not quite at the same rate as that seen in higher doses. Very low dose enzyme replacement therapy may be appropriate for adult type I Gaucher patients with mild-moderate skeletal disease.
authors.affiliation: National Metabolic Service, Lab Plus, Auckland, New Zealand. callumw@adhb.govt.nz
authors.forename: Callum
authors.initials: C
authors.lastname: Wilson
authors.forename: Ruth
authors.initials: R
authors.lastname: Spearing
authors.forename: Lochie
authors.initials: L
authors.lastname: Teague
authors.forename: Patsy
authors.initials: P
authors.lastname: Robertson
authors.forename: Hilary
authors.initials: H
authors.lastname: Blacklock
mesh_terms: D000293:Adolescent; D000328:Adult; D001691:Biological Therapy; D015415:Biomarkers / Q000378:metabolism*; D004305:Dose-Response Relationship, Drug; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000201:enzymology; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000493:pharmacokinetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011788:Quality of Life; D012189:Retrospective Studies; D014018:Tissue Distribution; D016896:Treatment Outcome
chemical_list: D015415:Biomarkers; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase