Ankit Mehta, MD, Nephrologist and Program Director for the Department of Internal Medicine at Baylor University Medical Center, discusses the current treatment landscape for Fabry disease, including approved and investigational therapies.
Fabry disease is a rare X-linked lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Characteristic features of Fabry disease include acroparesthesias, hypertrophic cardiomyopathy, proteinuria, gastrointestinal problems, angiokeratomas, hypohidrosis, corneal opacity, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke.
As Dr. Mehta explains, there are two treatments for Fabry disease that are currently approved by the U.S. Food and Drug Administration. The first is agalsidase beta (Fabrazyme), an enzyme replacement therapy (ERT) that requires life-long bi-weekly infusions. The second is migalastat (Galafold), an oral chaperone therapy that is only effective in some Fabry disease patients – namely those with certain genetic mutations that do not affect the production of alpha-galactosidase-A but instead prevent the secretion of the enzyme.
Dr. Mehta also addresses the research landscape for Fabry disease. As he notes, the potential for a gene therapy for this disease is exciting as it would eliminate the burden of life-long treatment. Outside of gene therapy options, longer-lasting ERTs, like pegunigalsidase alfa, are also under investigation.
To learn more about Fabry disease and other lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/
