Research, Clinical Trials, and Data Gathering

Our prognosis for a brighter future appears to be good with support from our community.

Please participate in a clinical trial if you are able. They are so important to our future and to the future of our children.

Individuals with Fabry disease have disease management and treatment options today because of researchers, physicians, patients, research 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.

With the availability of enzyme replacement therapy and oral chaperone therapy to clear lipid (GL-3) accumulation from the body; with kidney dialysis and transplants; and with supplemental therapies to manage pain, proteinuria, high blood pressure, heart rhythm, stroke risk, high cholesterol, etc. many individuals with Fabry disease have a chance to live better and longer lives. But, significant challenges remain to increase the understanding of Fabry disease and its effects and to improve treatment and management options beyond today's successes.

In addition to the two current Enzyme Replacement therapies and oral chaperone therapy now available, other investigational drug clinical trials are in progress. To learn about these ongoing clinical trials and other research visit www.clinicaltrials.gov. Enter Fabry Disease in the search box and select other filters as appropriate to find what you are looking for.

To our knowledge, there are primarily five areas of current and pending research for Fabry disease:

• Enzyme Replacement Therapy - Replacement of the missing enzyme to clear the lipids (GL-3) from the cells.
• Substrate Synthesis Inhibition also called Substrate Reduction Therapy (SRT) - 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 Editing -Technology that can potentially cut and fix a broken gene in a cell.
• Gene Therapy - Genetically modifies the affected cells to produce the missing enzyme.

The National Fabry Disease Foundation sponsors and facilitates participation in clinical trials and studies, and participates in information gathering efforts to support Fabry disease research as well as advocating for continued research whenever possible. The NFDF's Patient Reported Outcomes Survey (PROS) Program gathers patient-reported outcomes and trends to share with the Fabry community. The survey results are valuable to identify health trends for patients to speak to their physicians about and to inform future research.

The Fabry Registry and the Fabry Outcome Survey are very important registries for providing a better understanding of Fabry disease!

We urge all individuals with Fabry disease with or without symptoms and regardless of treatment status to request participation in a registry from their physician.