Jack Johnson, Executive Director of the Fabry Support and Information Group (FSIG) discusses the many research advances being made in Fabry disease.
Fabry disease is a rare, X-linked lysosomal storage disorder. It is caused by the deficiency of the enzyme α-galactosidase A (α-Gal A) due to mutations in the GLA gene.
Common symptoms include neuropathic pain, gastrointestinal symptoms, skin lesions, renal failure, and cardiovascular disease. Currently, two different types of therapies are approved for the treatment of Fabry disease – enzyme replacement therapy and/or chaperone therapy.
As Mr. Johnson notes, more treatments are in development for this rare condition. Those developmental treatments include newer enzyme replacement therapies and gene therapies.
To learn more about Fabry disease and other genetic disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/