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Fabry Disease Research

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Fabry Disease Research

"Learn from yesterday, live for today, hope for tomorrow. The important thing is not to stop questioning." Albert Einstein  
 
Current Fabry Disease Clinical Trials and Studies.
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.
 
With enzyme replacement therapy to clear lipid (GL-3) accumulation form our bodies, 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 can live better and longer lives. But significant challenges remain to increase understanding of Fabry disease and its effects, and to improve treatment and management options beyond today's successes.
 
There are primarily four areas of research for Fabry disease.
  • 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.
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.
Last modified on Tuesday, 13 March 2012 13:12
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Founder's Corner

Greetings everyone! We've come a long way and I'd like to share a few things with you from time to time. Thanks for listening (reading) and for your input and participation. I remain very fortunate and proud to serve the Fabry community. June 2012.  Founder and President, Jerry Walter

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