Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage

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• 作者：Pilar Giraldo^a ; ^b ; ^c ; ^{giraldo.p@gmail.com} ; Pilar Ir&#xfa ; n^b ; ^c ; Pilar Alfonso^b ; ^c ; Jaime Dalmau^d ; Maria A. Ferná ; ndez-Galá ; n^e ; Antonio Figueredo^f ; Jes&#xfa ; s M. Herná ; ndez-Rivas^g ; Antonio Julia^h ; Elisa Luñ ; oⁱ ; Francisca Marí ; n-Jimenez^j ; Guillermo Martí ; n-Nuñ ; ez^e ; Jorge L. Montserrat^k ; Javier de la Serna^l ; Antonio Vidaller^m ; Lucia Villaló ; nⁿ ; Miguel Pocovi^b ; ^c ; ^o
• 关键词：Cerezyme ; Imiglucerase shortage ; Gaucher disease ; Biomarkers ; Enzyme discontinuation
• 刊名：Blood Cells, Molecules, and Diseases
• 出版年：2011
• 出版时间：15 January 2011
• 年：2011
• 卷：46
• 期：1
• 页码：115-118
• 全文大小：562 K

文摘

Recently, an acute restriction of imiglucerase has occurred as a result of viral contamination and manufacturing problems. A position statement from the European Working Group for Gaucher Disease and European Gaucher Alliance established a set of key recommendations for identifying and monitoring at-risk patients. In Spain, a profile of the shortage situation was obtained through follow-up of patients with Gaucher disease (GD) and compliance with the therapy recommendations. Here we describe a group of patients, with modified doses of imiglucerase, during the shortage. Fifty adult GD1 patients (25 males/25 females), previously on ERT, were analysed before and after the 6-month shortage. The mean age was 45.3 ± 15.3 years (range: 18–84). The mean Severity Score Index at diagnosis was 8.7 ± 3.8 (range: 3–19); 20 % of patients were splenectomized; and 78 % had bone disease. During the shortage, 23 patients (46 % ) discontinued therapy; as complications in this group only one patient suffered a bone crisis and another anaemia (Hb < 10.0 g/dL). The mean reduction of haemoglobin level (−2.7 % ) and platelet counts (−5.4 % ) were non-significant. Chitotriosidase (CT) activity was increased 135 % (p < 0.03) and CCL18/PARC 8.2 % (p < 0.08) in this group. Imiglucerase was reduced by 50 % in 17 patients (34 % ) in this group, seven patients (41.0 % ) suffered bone pain, three of them true bone crisis and four (23.5 % ) required support therapy. The mean reduction of haemoglobin (−2.8 % ) and platelet counts (−10.7 % ), CT activity was increased 48.2 % (p < 0.03) and no changes were observed in CCL18/PARC concentration. In both groups no significant changes in visceral size were observed. In 3 patients (6 % ), imiglucerase was reduced 75 % and 7 patients (14 % ) needed to switch to another ERT (4 patients) or miglustat (3 patients) due to a restart of symptomatic disease. In Spain the 6 first months shortage of imiglucerase have produced a 20 % incidence of bone pain, one case of anaemia, and a significant increase in CT activity. Fourteen percent of patients had to switch to another therapy. No significant changes in blood counts, visceral volumes and CCL18/PARC concentration were observed.