Journal article

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R Wilcox

MOLECULAR GENETICS AND METABOLISM REPORTS | ELSEVIER | Published : 2020

Abstract

Background: Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in classically affected male patients. Clinical presentations in males with later-onset Fabry phenotypes are more heterogeneous and largely dependent on the level of residual α-galactosidase A activity. Methods: We assessed agalsidase beta treatment outcomes of gastrointestinal symptoms in adult males with classic or later-onset Fabry disease. Self-reports of abdominal pain and diarrhea ('present'/'not present' since previous assessment) at last clinical visit (≥0.5 year of follow-up) were compared with treatment-baseline. Results:..

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Funding Acknowledgements

This work was supported by Sanofi Genzyme, the sponsor of the Fabry Registry, including the medical writing/editing support in the preparation of this manuscript from Emma Butterworth of Excerpta Medica. Hans Ebels of Sanofi Genzyme provided editorial support and Badari Gudivada of Sanofi Genzyme provided programming support. The authors are responsible for the content of this manuscript and the decision to submit the manuscript for publication. AO was supported by ISCIII Intensificacion de la Actividad Investigadora.