Treatment of Fabry Disease management with migalastat—outcome from a prospective 24 months observational multicenter study (FAMOUS)

• DOI: 10.1093/ehjcvp/pvab025
• Publication Date: 2021-03-11T20:10:55Z
• Authors: Malte Lenders; Peter Nordbeck; Christine Kurschat; Maria Eveslage; Nesrin Karabul; Jessica Kaufeld; Julia B Hennermann; Monica Patten; Markus Cybulla; Jonas Müntze; Nurcan Üçeyler; Dan Liu; Anibh M Das; Claudia Sommer; Christian Pogoda; Stefanie Reiermann; Thomas Duning; Jens Gaedeke; Katharina von Cossel; Daniela Blaschke; Stefan-Martin Brand; W Alexander Mann; Christoph Kampmann; Nicole Muschol; Sima Canaan-Kühl; Eva Brand
• Keywords: Globotriaosylceramide

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA/AGAL) resulting in accumulation globotriaosylceramide (Gb3). Patients with amenable GLA mutations can be treated migalastat, oral pharmacologic chaperone increasing endogenous AGAL activity. In this prospective observational multicenter study safety as well cardiovascular, renal, and patient-reported outcomes biomarkers were assessed after 12 24 months migalastat treatment under "real world" conditions.54 patients (26 females) (33 these [61.1%] pre-treated replacement therapy) analyzed. Treatment was generally safe tolerated. 153 events per 1,000 patient-years detected. Overall left ventricular mass index decreased (all: -7.5 ± 17.4 g/m2, p = 0.0118; females: -4.6 9.1 0.0554; males: -9.9 22.2 0.0699). After months, females males presented moderate yearly loss eGFR (-2.6 -4.4 ml/min/1.73 m2 year; 0.0317 0.0028, respectively). FD-specific manifestations/symptoms remained stable (all > 0.05). 76.9% 50% suffered from pain, which has not improved treatment. scores (DS3 MSSI) during activities plasma lyso-Gb3 values stable, although some male levels over time.Treatment resulted most amelioration mass. However, due to heterogeneity FD phenotypes, it advisable that treating physician monitors clinical response regularly.