Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy-Reference-Cited by-同舟云学术

Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy

Published:2023-12 Issue:23 Volume:15 Page:1421-1437
ISSN:1757-6180
Container-title:Bioanalysis
language:en
Short-container-title:Bioanalysis

Author:

Auray-Blais Christiane¹^ORCID,Lavoie Pamela¹^ORCID,Martineau Tristan¹^ORCID,Ntumba Georges Kabala¹^ORCID,Gamrani Mohamed¹^ORCID,Khan Aneal²^ORCID,Altarescu Gheona³^ORCID,Lehman Anna⁴^ORCID,Goker-Alpan Ozlem⁵^ORCID,Nowak Albina⁶^ORCID,West Michael L⁷^ORCID,Bichet Daniel G⁸^ORCID

Affiliation:

1. Division of Medical Genetics, Department of Pediatrics, Centre de Recherche–CIUSSS de l'Estrie-CHUS, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC J1H 5N4, Canada

2. M.A.G.I.C. (Metabolics and Genetics in Canada) Clinic Ltd, Calgary, Alberta, Canada

3. Shaare Zedek Medical Center, Shmuel (Hans) Beyth St 12, Jerusalem, 9103102, Israel

4. Department of Medical Genetics, University of British Columbia, Vancouver General Hospital, 899 W 12th Ave., Vancouver, BC V5Z 1M9, Canada

5. Lysosomal & Rare Disorders Research & Treatment Center-LDRTC, 3702 Pender Dr. STE 170, Fairfax, VA 22030, USA

6. Department of Endocrinology & Clinical Nutrition, University Hospital Zurich & University of Zurich, Rämistrasse 100, 8091, Zurich, Switzerland

7. Division of Nephrology, Department of Medicine, Dalhousie University, QE II Health Sciences Centre, 1276 South Park Street, Halifax, NS B3H 2Y9, Canada

8. University of Montreal & Nephrology Service, Research Center, Hôpital du Sacré-Coeur de Montreal, 5400 Boul. Gouin O, Montreal, QC, H4J 1C5, Canada

Abstract

Background: A biomarker profile was evaluated longitudinally in patients with Fabry disease switched from enzyme-replacement therapy (ERT) to migalastat. Methods: 16 Gb3 isoforms and eight lyso-Gb3 analogues were analyzed in plasma and urine by LC–MS/MS at baseline and at three different time points in naive participants and participants switching from either agalsidase α or β to migalastat. Results: 29 adult participants were recruited internationally (seven centers). The Mainz Severity Score Index and mean biomarker levels remained stable (p ≥ 0.05) over a minimum of 12 months compared with baseline following the treatment switch. Conclusion: In this cohort of patients with Fabry disease with amenable mutations, in the short term, a switch from ERT to migalastat did not have a marked effect on the average biomarker profile.

Funder

Amicus Therapeutics

Publisher

Future Science Ltd

Subject

Medical Laboratory Technology,Clinical Biochemistry,General Pharmacology, Toxicology and Pharmaceutics,General Medicine,Analytical Chemistry

Link

https://www.future-science.com/doi/pdf/10.4155/bio-2023-0160

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