Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry

JIMD Reports
William R WilcoxRobert J Hopkin

Abstract

Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-treatment abdominal pain was reported by 45% o...Continue Reading

Associated Clinical Trials

Citations

Aug 11, 2018·Journal of the American Society of Nephrology : JASN·Malte Lenders, Eva Brand
Aug 21, 2019·Scientific Reports·John-Jairo Aguilera-CorreaTeresa Requena
Jan 14, 2021·Molecular Genetics and Metabolism Reports·Marina Dutra-ClarkeVirginia Kimonis
Apr 4, 2021·International Journal of Environmental Research and Public Health·Fabio CaputoGiorgio Zoli
Apr 30, 2021·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Alan L ShieldsNina Skuban
Mar 19, 2020·Current Pharmaceutical Design·Irene SimonettaAntonio Pinto

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