According to a story from Fabry Disease News, any member of the Fabry disease patient community should strongly consider signing up for the Fabry Registry. Getting involved comes with several benefits and allows you to directly contribute to essential research that could ultimately lead to the creation of new, more effective methods of treatment. This registry is international in scope.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
About the Fabry Registry
The Fabry Registry is managed by a team of physicians that are highly experienced in the management of this rare disease and is sponsored by Sanofi Genzyme. It is a critical resource for research and through data gathered with it scientists are hoping to increase their overall understanding of how Fabry disease progresses, as well as understanding the variability in how patients are impacted. The registry also contributes to efforts to monitor the impact of enzyme replacement therapy. The therapy is called Fabrazyme and was originally developed by Sanofi.
If you sign up for the registry, you can opt to receive updates about trials and the latest research studies related to the disease. If you are interested in getting enrolled you need to talk to your doctor about signing up first. Generally, the results of certain tests and assessments that you likely took as a part of your disease management will be entered into the registry so that the data can be used for research.
Don’t miss out on the opportunity to contribute to critical Fabry disease research. Talk to your doctor today.
