title: Interruption of enzyme replacement therapy in Gaucher disease.
abstract: In Australia, 58 patients with Gaucher disease were managed by a Gaucher Disease Advisory Committee (GDAC) through a centrally adminis-tered national programme, the Life Savings Drug Program (LSDP). In June 2009, Genzyme Corporation, which manufactures imiglucerase (Cerezyme), the only enzyme replacement therapy (ERT) registered for the treatment of Gaucher disease in Australia at that time, announced that due to a viral contamination problem there would be no further shipments of Cerezyme to Australia prior to the end of 2009. The GDAC allocated available drug supplies in order to maintain treatment to those most in need on a hierarchal clinical severity basis. A cohort of 24 patients with Type 1 Gaucher disease was withdrawn from therapy, 22 of whom had no discernible clinically significant adverse effects when reviewed off therapy for up to 6 months. In this paper, we review the course of 20 of the patients who have been on imiglucerase for periods of at least 24 months after the end of their 'drug holiday'. No patient experienced a bone crisis nor clinical nor magnetic resonance imaging evidence of new avascular necrosis events during this period. Two years after recommencing ERT after a 6-month drug holiday, no patient had developed an overt irreversible complication of their Gaucher disease, with the majority returning to their previous clinical status.
authors.affiliation: Genetic Services of Western Australia, King Edward Memorial Hospital, and School of Paediatrics and Child Health, University of Western Australia, Perth, Australia. jack.goldblatt@health.wa.gov.au.
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: J M
authors.initials: JM
authors.lastname: Fletcher
authors.forename: J
authors.initials: J
authors.lastname: McGill
authors.forename: J
authors.initials: J
authors.lastname: Szer
authors.forename: M
authors.initials: M
authors.lastname: Wilson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001315:Australia; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy* / Q000503:physiopathology; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000600:supply & distribution; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index; D013997:Time Factors; D055815:Young Adult
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase