Fabry Disease Research
Please participate in a clinical trial if you are able. They are so important to our future and to the future of our children.
The Fabry Registry
Vitally important to a better understanding of Fabry disease
Individuals with Fabry disease have disease management and treatment options today because of researchers, physicians, patients, corporate sponsors and others who were courageous enough to engage in rare disease research and clinical trials. We are forever grateful for their many years of dedicated service and sacrifices.
Enzyme Replacement Therapy - Replacement of the missing enzyme to clear the lipids (GL-3) from the cells.
Substrate Synthesis Inhibition - Inhibits the production of the lipid (GL-3) that accumulates in the cells.
Chaperone Therapy - Uses small molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function.
Gene Therapy - Genetically modifies the affected cells to produce the missing enzyme.