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Papers of the Week

Papers: 21 Jan 2023 - 3 Feb 2023

2022 Nov 30

Mol Genet Metab



Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.


Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo H-W, Burlina AP, Mauer M
Mol Genet Metab. 2022 Nov 30; 138(2):106967.
PMID: 36709533.


Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific treatment among young patients have not been extensively reported. Our aim was to analyze clinical outcomes among patients aged 5-30 years at initiation of treatment with agalsidase beta using data from the Fabry Registry (NCT00196742, sponsor: Sanofi).