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Renal and cardiac outcomes of young male patients with Fabry disease initiated on agalsidase beta treatment before age 30: A Fabry Registry analysis


Fabry disease (FD) is a progressive X-linked disorder resulting from deficiency of α-galactosidase and lysosomal accumulation of glycolipids.

Material e Método

This Fabry Registry (NCT00196742) analysis assessed renal and cardiac outcomes of agalsidase beta treatment (1 mg/kg 2-weekly) for ≥2 years in male patients with age at first treatment (AFT) of 5–30 years. GLA variants were classic or unclassified (fabry-database.org), which shared classic clinical features. Longitudinal post-treatment analyses included estimated glomerular filtration rate (eGFR, bedside Schwartz equation) stratified by low (LRI, urine protein-to-creatinine ratio [UPCR] ≤0.5 or albumin-to-creatinine ratio [UACR] ≤0.3), or high renal involvement (HRI, UPCR >0.5 or UACR >0.3), and Z-scores of cardiac interventricular septum thickness (IVST) and left ventricular posterior wall thickness (LVPWT), stratified by median AFT.


The 31 HRI patients had higher AFT and lower baseline eGFR compared to the 189 LRI patients (median AFT: 26.1 vs. 17.1 years; eGFR: 81 vs. 92.6 ml/min/1.73m2; P<0.01, respectively). Among patients with repeated post-treatment assessments, eGFR declined more prominently among HRI patients (slopes: HRI [n=16]; –2.56 LRI [n=66] –1.29 ml/min/1.73m2/year; P-interaction=0.002). Median AFT was 25.3 and 20.6 years, and follow-up 4.4 and 3.9 years, respectively. Median AFT among patients with cardiac measures was 22.3 years. Post-treatment LVPWT and IVST Z-scores did not significantly change. Slopes of LVPWT and IVST Z-scores were –0.10 and –0.07, respectively, for the older males (n=14) and –0.08 and –1.11 for the younger males (n=13) (P-interaction: LVPWT: 0.25; IVST: 0.11).

Discussão e Conclusões

Young males with HRI had worse baseline clinical profiles and started treatment later than LRI patients. After treatment, patients with HRI had a greater decline in eGFR. Cardiac measures remained stable over time regardless of age at treatment initiation. The limited patient numbers and absence of untreated FD comparators warrant careful interpretation of the results. Funding (Fabry Registry, abstract): Sanofi Genzyme.

These data were previously presented as an abstract and poster at the 15th Annual WORLDSymposium™ 2019, February 4–8, 2019, Orlando, FL, USA. Mol Genet Metab. 2019;126(2):S73–S74. Abstract: 161.

Palavras Chave

Agalsidase beta, Cardiac function, Fabry Registry, GLA variants, Males, Renal function


Nefrologia Clínica


Federal University of Sao Paulo - Sao Paulo - Brasil


Robert J Hopkin, Gustavo H Cabrera, John J Jefferies, Eva Brand, Ulla Feldt-Rasmussen, Dominique P Germain, Nathalie Guffon, Ana Jovanovic, Ilkka Kantola, Amel Karaa, Ana M Martins, William R Wilcox, Meng Yang, Han-Woo Yoo, Michael Mauer