Results 51 to 60 of about 957 (152)

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain, Pronabesh DasMahapatra, Shiguang Liu, Patrick Deegan, Alberto Ortiz, Vijay Modur, William R. Wilcox   +6 more
wiley   +1 more source

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +1 more source

Fabry Disease Associated With Myelodysplastic Syndrome: Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng, Zhiwei Wu, Shuzhen Chen, Chunfa Weng, Junwei Huang, Jinzao Chen   +5 more
wiley   +1 more source

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often with ...
Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg   +8 more
doaj   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) for Fabry disease (deficiency of α-galactosidase A, α-Gal) with recombinant α-Gals (agalsidase alfa and agalsidase beta) is widely available and improves some of the clinical manifestations and biochemical findings ...
Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba   +5 more
doaj   +1 more source