Abstract
Fabry disease is an inherited disease with multiorgan involvement. Until now the only specific therapy was intravenous enzyme replacement.
In a short time a new oral therapy with migalastat is expected on our market. The medication is indicated only for treatment of certain mutations with residual enzyme activity.
It binds to the enzyme, stabilizes it and enhances its transportation to lysosomes. Results of clinical studies are favourable and indicate that the new medication migalastat could significantly increase the quality of care of selected patients.