000079156 001__ 79156
000079156 005__ 20200117221641.0
000079156 0247_ $$2doi$$a10.1111/bcpt.12977
000079156 0248_ $$2sideral$$a107105
000079156 037__ $$aART-2018-107105
000079156 041__ $$aeng
000079156 100__ $$aGras-Colomer, E.
000079156 245__ $$aRelationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I
000079156 260__ $$c2018
000079156 5060_ $$aAccess copy available to the general public$$fUnrestricted
000079156 5203_ $$aThe quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients with Gaucher disease type I (GD1) to ERT. The study included patients diagnosed with GD1, who were being treated with ERT, and healthy individuals. Markers based on glucocerebrosidase activity measurement in patients’ leucocytes were studied: enzyme activity at 15 min. post-infusion (Act75) reflects the amount of enzyme that is distributed in the body post-ERT infusion, and accumulated glucocerebrosidase activity during ERT infusion (Act75-0) indicates the total drug exposure during infusion. The clinical response was evaluated based on criteria established by Pastores et al. and Gaucher Severity Score Index. Statistical analysis included ROC analysis and area under the curve test. Act75 and Act75-0 were found to be moderate predictive markers of an optimal clinical response (area under the ROC of Act75 was 0.733 and Act75-0 was 0.817). Act75-0 showed statistical significance in its discriminative capacity (p < 0.05) for obtaining an optimal response to ERT. The cut-off point was 58% (RR = 1.800; 95% CI: 1.003–3.229; p < 0.05). Moreover, Act75 showed a significant and inverse correlation with the Gaucher Severity Score Index, and Act75 and Act75-0 presented a significant correlation with residual enzyme activity at diagnosis. Markers based on glucocerebrosidase activity have a good correlation with clinical response to ERT. Therefore, it could provide supporting clinical data for dose management in GD1 patients.
000079156 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000079156 590__ $$a2.452$$b2018
000079156 591__ $$aTOXICOLOGY$$b53 / 93 = 0.57$$c2018$$dQ3$$eT2
000079156 591__ $$aPHARMACOLOGY & PHARMACY$$b140 / 266 = 0.526$$c2018$$dQ3$$eT2
000079156 592__ $$a0.728$$b2018
000079156 593__ $$aMedicine (miscellaneous)$$c2018$$dQ2
000079156 593__ $$aToxicology$$c2018$$dQ2
000079156 593__ $$aPharmacology$$c2018$$dQ2
000079156 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000079156 700__ $$aMartínez-Gómez, M.A.
000079156 700__ $$aClimente-Martí, M.
000079156 700__ $$aFernandez-Zarzoso, M.
000079156 700__ $$aAlmela-Tejedo, M.
000079156 700__ $$aGiner-Galvañ, V.
000079156 700__ $$aMarcos-Rodríguez, J.A.
000079156 700__ $$aRodríguez-Fernández, A.
000079156 700__ $$0(orcid)0000-0001-9760-1248$$aTorralba-Cabeza, M.Á.$$uUniversidad de Zaragoza
000079156 700__ $$aMerino-Sanjuan, M.
000079156 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000079156 773__ $$g123, 1 (2018), 65-71$$pBasic Clin. Pharmacol. Toxicol.$$tBasic & clinical pharmacology & toxicology$$x1742-7835
000079156 8564_ $$s708761$$uhttps://zaguan.unizar.es/record/79156/files/texto_completo.pdf$$yPostprint
000079156 8564_ $$s68305$$uhttps://zaguan.unizar.es/record/79156/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000079156 909CO $$ooai:zaguan.unizar.es:79156$$particulos$$pdriver
000079156 951__ $$a2020-01-17-22:04:32
000079156 980__ $$aARTICLE