Abstract: PUB304
Fabry Disease Baseline Phenotype in Migalastat-Treated Patients: A Single-Centre Experience
Session Information
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Rusu, Elena-Emanuela, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania
- Ismail, Gener, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania
Background
Fabry disease (FD) is a rare lysosomal storage disease causing progressive kidney, heart and nervous system disorders. Migalastat is an oral FD specific treatment that provides a suitable alternative in patients with amenable genetic variants.
The aim of our retrospective study is to present the clinical phenotype of FD amenable patients evaluated and initiated on migalastat in the Expert Center for Rare Diseases of the Reno-Urinary System between 2020 – 2024.
Methods
All patients had comprehensive assessment for target organ manifestations of FD. Renal function was assessed using eGFR, albumin creatinine ratio and proteinuria. Also, 7 patients underwent kidney biopsy (KB).
Results
Our study included 12 adult (6M/6F) patients with confirmed diagnosis of FD by the genetic test and amenable GLA variants. Seven patients presented classic FD phenotype, while five patients presented late-onset FD phenotype.
Seven patients started “de novo” migalastat and 5 were switched from enzyme replacement therapy (ERT). In naïve patients, the main indications were: heart disease (5 cases), kidney damage (1 case), neurological involvement (2 cases). In patients switched from ERT, the most frequent indication was the patient decision.
At baseline, average age of the patients was 47.5 +/- 16.1 years old (range 24-75). Alfa-GLA activity was reduced in 10 patients, mean 1.6 +/- 1.8 mol/L/h. Overall baseline mean eGFR was 79.6 26.7 mL/min/1.73 m2. Five patients presented CKD stage 3, three patients presented kidney transplantation, 2 patients were in CKD stage 2, one patient with CKD stage 1, and 1 patient without clinical kidney involvement. Six patients presented normal UACR, four patients showed microalbuminuria, and 2 patients presented macroalbuminuria. KB was performed before ERT in 3 cases, before switch in 1 case, and in 3 naïve patients before migalastat treatment. Eight patients presented left ventricular hypertrophy. There was a statistically significant difference in eGFR in the males versus females (p=0.048), but no difference between classic versus late-onset phenotype. Left ventricular mass index were significantly high in late onset phenotypes.
Conclusion
Migalastat has been successfully initiated in this cohort of disease-specific naïve and previously treated patients with amenable mutations, after a complete patient evaluation by a multidisciplinary FD team.