About Fabry Disease

Fabry disease is a potentially life-threatening, inherited, multi-systemic disorder caused by reduced or absent alpha-galactosidase A (α-GAL A) activity due to mutations in the GLA gene. Deficient α-GAL A activity results in accumulation of glycosphingolipid (particularly globotriaosylceramide, also known as GL-3) in lysosomes, leading to cellular and organ damage that affects the renal, cardiovascular, and cerebrovascular systems, as well as the reduction in life expectancy and quality of life.Footnote1

Just like the severity of symptoms vary from person to person, the same treatments do not work for everyone. Some patients still experience conditions such as nerve and abdominal pain, as well as left ventricular hypertrophy, which is when blood fails to efficiently pump in the heart’s left pumping chamber. Clinical studies such as the CARAT and PERIDOT studies are important in the search for potential future treatment options for patients with Fabry disease.

Participants in the CARAT and PERIDOT studies could also make a difference in the lives of others with Fabry disease. If you’re interested in joining the CARAT or PERIDOT studies, we invite you to answer some questions about yourself and see if you may prequalify.