Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year
Please always quote using this URN: urn:nbn:de:bvb:20-opus-231626
- Long-term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single-center study on 14 patients with Fabry disease (55 ± 14 years; 11 men). After 1 year of open-label migalastat therapy, patients showed significant changes in alpha-galactosidase-A activity (0.06–0.2 nmol/minute/mg protein; P = 0.001), left ventricular myocardial mass index (137–130 g/m2; P = 0.037), and serum creatinine (0.94–1.0 mg/dL; P = 0.021), accounting for deterioration inLong-term effects of migalastat therapy in clinical practice are currently unknown. We evaluated migalastat efficacy and biomarker changes in a prospective, single-center study on 14 patients with Fabry disease (55 ± 14 years; 11 men). After 1 year of open-label migalastat therapy, patients showed significant changes in alpha-galactosidase-A activity (0.06–0.2 nmol/minute/mg protein; P = 0.001), left ventricular myocardial mass index (137–130 g/m2; P = 0.037), and serum creatinine (0.94–1.0 mg/dL; P = 0.021), accounting for deterioration in estimated glomerular filtration rate (87–78 mL/minute/1.73 m2; P = 0.012). The enzymatic increase correlated with myocardial mass reduction (r = −0.546; P = 0.044) but not with renal function (r = −0.086; P = 0.770). Plasma globotriaosylsphingosine was reduced in therapy-naive patients (10.9–6.0 ng/mL; P = 0.021) and stable (9.6–12.1 ng/mL; P = 0.607) in patients switched from prior enzyme-replacement therapy. These first real-world data show that migalastat substantially increases alpha-galactosidase-A activity, stabilizes related serum biomarkers, and improves cardiac integrity in male and female patients with amenable Fabry disease mutations.…
Author: | Jonas Müntze, Daniel Gensler, Octavian Maniuc, Dan Liu, Tereza Cairns, Daniel Oder, Kai Hu, Kristina Lorenz, Stefan Frantz, Christoph Wanner, Peter Nordbeck |
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URN: | urn:nbn:de:bvb:20-opus-231626 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Medizinische Klinik und Poliklinik I |
Medizinische Fakultät / Deutsches Zentrum für Herzinsuffizienz (DZHI) | |
Language: | English |
Parent Title (English): | Clinical Pharmacology & Therapeutics |
Year of Completion: | 2019 |
Volume: | 105 |
Pagenumber: | 1224-1233 |
Source: | Clinical Pharmacology & Therapeutics (2019) 105:1224-1233. https://doi.org/10.1002/cpt.1321 |
DOI: | https://doi.org/10.1002/cpt.1321 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Release Date: | 2024/08/22 |
Licence (German): | ![]() |