"Learn from yesterday, live for today, hope for tomorrow. The important thing is not to stop questioning." Albert Einstein
Individuals with Fabry disease have disease management and treatment options today because of a relatively few 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 kidney dialysis and transplants, enzyme replacement therapy, and other disease management options many individuals with Fabry disease can live healthier 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.
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Enzyme Replacement Therapy - Replacement of the missing enzyme to clear the lipids (GL-3) from the cells.
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Substrate Synthesis Inhibition - Inhibits the production of the lipid (GL-3) that accumulates in the cells.
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Chaperone Therapy - Uses small molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function.
There are two brochures produced by Amicus Therapeutics that provide a better understanding of misfolded genes called "What's Missing?" (2007) and a better understanding of pharmcological chaperones and lysosomal storage disorders called "Pharmacological Chaperones" (2008). The brochures can be downloaded from
www.amicustherapeutics.com or requested from
patientadvocacy@amicutherapeutics.com.
If you are interested in keeping up with Amicus news and information, send the attached contact form below to Patient Advocacy, 6 Cedar Brook Drive, Cranbury, NJ 08512
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Gene Therapy - Genetically modifies the affected cells to produce the missing enzyme.
The NFDF will sponsor and participate in many information gathering efforts and will support and advocate for continued research whenever possible.
