Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum.
Methods: In this observational study of children under 5 years of age with variants in the gene, prospective phenotypic and urinary biomarker data were collected annually over 5 years.
Results: The study population included 40 participants (35 male, 5 female) with variants including 15 with classic pathogenic variants (CFD), 6 with nonclassic pathogenic variants (NFD), and 19 with a variant of uncertain significance.