Dominique P Germain1, Michael Arad2, Alessandro Burlina3, Perry M Elliott4, Bruno Falissard5, Ulla Feldt-Rasmussen6, Max J Hilz7, Derralynn A Hughes8, Alberto Ortiz9, Christoph Wanner10, Frank Weidemann11, Marco Spada12. 1. French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France. Electronic address: dominique.p.germain@aphp.fr. 2. Leviev Heart Center, Sheba Medical Center, Tel Hashomer, and Tel Aviv University, Israel. 3. Neurological Unit, St Bassiano Hospital, Bassano del Grappa, Italy. 4. University College London and Barts Heart Centre, London, United Kingdom. 5. INSERM U1018, University of Paris-Sud, University of Paris-Descartes, Paris, France. 6. Department of Medical Endocrinology, Section 2132, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. 7. Department of Neurology, University of Erlangen-Nuremberg, Erlangen, Germany. 8. Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free London NHS Foundation Trust and University College London, United Kingdom. 9. Unidad de Diálisis, IIS-Fundación Jiménez Díaz/UAM, IRSIN and REDINREN, Madrid, Spain. 10. Division of Nephrology, University Clinic, University of Würzburg, Würzburg, Germany. 11. Department of Cardiology, Innere Klinik II, Katharinen-Hospital, Unna, Germany. 12. Department of Paediatrics, University of Torino, Torino, Italy.
Abstract
BACKGROUND: Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients. METHODS: A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type. RESULTS: Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease. CONCLUSIONS: This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.
BACKGROUND: Heterozygous females with Fabry disease have a wide range of clinical phenotypes depending on the nature of their mutation and their X-chromosome inactivation pattern; it is therefore important to examine outcomes of enzyme replacement therapy (ERT) in the female patient population specifically. This paper presents the findings of a systematic literature review of treatment outcomes with ERT in adult female patients. METHODS: A comprehensive systematic literature review was conducted through January 2017 to retrieve published papers with original data on ERT in the treatment of Fabry disease. The review included all original articles that presented ERT outcomes data on patients with Fabry disease, irrespective of the study type. RESULTS: Clinical evidence for the efficacy of ERT in female patients was available from 67 publications including six clinical trial publications, and indicates significant reductions in plasma and urine globotriaosylceramide (GL-3) accumulation (in female patients with elevated pre-treatment levels) and improvements in cardiac parameters and quality of life (QoL). To date, data are insufficient to conclude on the effects of ERT on the nervous system, gastrointestinal manifestations, and pain in female patients with Fabry disease. CONCLUSIONS: This review of available literature data demonstrates that ERT in adult female patients with Fabry disease has a beneficial effect on GL-3 levels and cardiac outcomes. The current evidence also suggests that ERT may improve QoL in this patient population, though further studies are needed to examine these results.
Authors: C Simoncini; S Torri; V Montano; L Chico; F Gruosso; A Tuttolomondo; A Pinto; I Simonetta; V Cianci; A Salviati; V Vicenzi; G Marchi; D Girelli; D Concolino; S Sestito; M Zedde; G Siciliano; Michelangelo Mancuso Journal: J Neurol Date: 2020-07-27 Impact factor: 4.849
Authors: Maria Monticelli; Ludovica Liguori; Mariateresa Allocca; Andrea Bosso; Giuseppina Andreotti; Jan Lukas; Maria Chiara Monti; Elva Morretta; Maria Vittoria Cubellis; Bruno Hay Mele Journal: Int J Mol Sci Date: 2022-05-04 Impact factor: 6.208
Authors: Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Aleš Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; João-Paulo Oliveira; Maurizio Pieroni; Miguel Viana-Baptista; Christoph Wanner; Marco Spada Journal: Mol Genet Metab Rep Date: 2019-02-06
Authors: Christoph Wanner; Ulla Feldt-Rasmussen; Ana Jovanovic; Aleš Linhart; Meng Yang; Elvira Ponce; Eva Brand; Dominique P Germain; Derralynn A Hughes; John L Jefferies; Ana Maria Martins; Albina Nowak; Bojan Vujkovac; Frank Weidemann; Michael L West; Alberto Ortiz Journal: ESC Heart Fail Date: 2020-02-26
Authors: Christie P Thomas; Margaret E Freese; Agnes Ounda; Jennifer G Jetton; Myrl Holida; Lama Noureddine; Richard J Smith Journal: Genet Med Date: 2020-03-17 Impact factor: 8.822