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Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.

Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal).

Background: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.

Background: Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index.

Amicus Therapeutics has announced that the FDA has granted accelerated approval of Galafold (migalastat) 123 mg capsules. Galafold is an...

Amicus Therapeutics has announced that the European Commission has granted full approval for the oral small molecule pharmacological chaperone Galafold...

Protalix BioTherapeutics announced positive topline results from its Phase III BRIDGE clinical trial of PRX 102 (pegunigalsidase alfa), the Company's plant cell-expressed recombinant, PEGylated, cross-linked alpha-galactosidase-A product candidate under development for the treatment of Fabry disease.

Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births.

Introduction: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies.

Amicus Therapeutics has announced the European Commission has approved Galafold (migalastat) for use in adolescents aged 12 to <16 years weighing greater than 45 kg with a confirmed diagnosis of fabry disease and who have an amenable mutation.