RT Journal Article
T1 Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.
A1 Gras-Colomer, Elena
A1 Martínez-Gómez, María-Amparo
A1 Climente-Martí, Mónica
A1 Fernandez-Zarzoso, Miguel
A1 Almela-Tejedo, Mercedes
A1 Giner-Galvañ, Vicente
A1 Marcos-Rodríguez, Jose-Antonio
A1 Rodríguez-Fernández, Alicia
A1 Torralba-Cabeza, Miguel-Ángel
A1 Merino-Sanjuan, Matilde
AB The 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
YR 2018
FD 2018-03-30
LK http://hdl.handle.net/10668/12098
UL http://hdl.handle.net/10668/12098
LA en
DS RISalud
RD Apr 6, 2025