0000000000867231
AUTHOR
Beck M
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey
The Fabry Outcome Survey (FOS) was established to extend the knowledge of the natural history of Fabry disease and to assess the effects of enzyme replacement therapy (ERT) with agalsidase alfa. As of March 2009, 64 boys and 34 girls with Fabry disease had enrolled in the FOS and been treated with agalsidase alfa for at least 6 months. The prevalence of symptoms tended to be reduced after 12 and 24 months of ERT in patients who experienced symptoms at baseline. In the entire population, non-significant decreases in the prevalence of gastrointestinal problems in boys and pain crises in girls were observed after 12-24 months. Kidney function and left ventricular mass indexed to height remaine…
Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey.
Fabry disease is an X-linked lysosomal storage disorder characterized by multi-organ dysfunction, including hearing loss - mainly sensorineural. The recent introduction of enzyme replacement therapy (ERT) has resulted in improvements in renal and cardiac function, pain and quality of life. One study has also suggested small improvements in high-frequency hearing. In this paper, we study the effect of ERT on hearing in patients in the Europe-wide database - the Fabry Outcome Survey (FOS). Twenty-six patients in FOS had pure-tone audiometry performed up to 6 months before starting ERT with agalsidase alpha and after a median of 12 months of treatment. We assessed changes in hearing thresholds…