The Bone Biomarker of Quantitative Chemical Shift Imaging in Patients with Type 1 Gaucher Disease Receiving Low-Dose Long-Term Enzyme Replacement Therapy

Zimran, A; Szer, J; Becker-Cohen, M; Jens, S; Cozma, C; Revel-Vilk, S

Author(s): Zimran, A; Szer, J; Becker-Cohen, M; Jens, S; Cozma, C; Revel-Vilk, S;
Details: Publication Year 2023-03-13,Volume 12,Issue #6,Page 2220
Journal Title: Journal of Clinical Medicine
Publication Type: Research article
Abstract: Quantitative chemical shift imaging (QCSI) is the most sensitive imaging biomarker to assess bone marrow involvement in Gaucher disease. Widespread QCSI use is limited by test availability. Anecdotal reports describe two patients demonstrating significant improvement in fat fraction (FF) assessed by QCSI following a switch from imiglucerase to taliglucerase alfa. This analysis evaluated bone marrow involvement in adults with Type 1 Gaucher disease receiving low-dose enzyme replacement therapy (ERT) with imiglucerase and/or velaglucerase alfa. We report baseline data for 30 patients meeting eligibility criteria. Median (range) duration and dose of ERT were 18 (5-26) years and 30 (30-60) U/kg/month, respectively. Low FF scores (<0.30) were observed for seven patients (23%; 95% confidence interval, 10-42%) and were more common in females (n = 6) versus males (n = 1; p < 0.025); one female was menopausal. These baseline data demonstrate that prolonged low-dose ERT with imiglucerase or velaglucerase alfa led to an adequate bone response, assessed by QCSI, in the majority of patients. A minority of such patients with suboptimal bone response require therapeutic change. The next phase of the study will address the effect of switching to taliglucerase alfa on bone status for patients with less than optimal QCSI scores (<0.30).
Publisher: MDPI
Keywords: Gaucher disease; bone marrow; enzyme replacement therapy; quantitative chemical shift imaging; treatment switch
Department(s): Clinical Haematology
PubMed ID: 36983221
Publisher's Version: https://doi.org/10.3390/jcm12062220
Open Access at Publisher's Site: https://doi.org/10.3390/jcm12062220
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2023-07-11 06:23:43

Last Modified: 2023-07-11 06:25:37