Anderson-Fabry disease is a rare X-linked recessive (inherited) lysosomal storage disease. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether; thus substances that should be broken down by the enzyme and recycled build up in the cell. This can cause a wide range of symptoms which affect the entire body. The kidneys, heart and brain can be affected and this can result in major illness and reduced life expectancy among affected individuals. Symptomatic males and females with Anderson-Fabry disease have been described within the literature, although the appearance of clinical signs may be delayed and more variable among females.
The review is based on five clinical trials that enrolled 187 participants. The trials used different formulations of the enzyme; two trials compared agalsidase alfa to placebo and three trials compared agalsidase beta to placebo. We analysed the two sets of data separately. Limited evidence from five small poor quality randomised controlled trials shows no robust evidence for use of both agalsidase beta and alfa to treat Anderson-Fabry disease. New studies should be undertaken with adequate sample size to detect possible differences among the treatment groups. Evaluating the same clinical outcomes should clarify the comparable effects of using the two current enzyme formulations (i.e. agalsidase alfa and agalsidase beta). Data on outcomes are being prospectively collected through surveillance or registry-based programs, as post-marketing commitments made by the sponsors.