Fabry disease is a rare, genetic disease found in approximately 1 out of 117,000 people. It is caused by a deficiency of the enzyme alpha galactosidase A, also known as alpha GAL, which breaks down a fatty substance called GL-3 in the body. The deficiency causes a build-up of GL-3 in cells throughout the body, eventually affecting the kidneys, heart, skin, brain and gastrointestinal system. In the kidneys, the build-up of GL-3 impairs their ability to filter waste and chemicals in the body. Left untreated, this can gradually lead to end stage renal disease, where dialysis or kidney transplantation may be the only viable treatment options.
Alpha-galactosidase A (α-Gal A) enzyme analysis plays a crucial role in diagnosing Fabry disease. Fabry disease is caused by mutations in the GLA gene, which lead to deficient or improper function of the enzyme α-Gal A. This enzyme is essential for breaking down specific fatty substances, primarily globotriaosylceramide (Gb3), in the body.
In individuals with Fabry disease, the lack of α-Gal A activity results in the accumulation of Gb3 in various body tissues, leading to a wide range of symptoms, including pain, kidney dysfunction, heart issues, and stroke. Early diagnosis and treatment are critical to manage symptoms and prevent severe complications.
What is the Program?
American Association of Kidney Patients (AAKP) has partnered with Emory University to provide complimentary genetic testing for individuals at-risk and families affected by Fabry Disease. AAKP and Emory are able to provide this free service and Fabry disease education thanks to contributions from Sanofi-Genzyme, Inc., and Amicus Therapeutics – companies known for their expertise and commitment in the area of rare genetic diseases.
Need testing? First talk with your doctor about testing, then order a testing kit. Kits can be ordered online by clicking here or by calling AAKP’s testing partners at the Emory Fabry Center at (404) 778-8518 or (800) 200-1524.
Have questions about the program, testing, or forms? Please contact the Emory project team at [email protected] or (404) 778-8518 or (800) 200-1524.
In order for a free test kit to be shipped to you, you will need to provide a mailing address and tell indicate if you would like a saliva collection kit or a blood draw kit.
Program Information
In Fabry patients, disease progression is often unpredictable, and symptoms can range from mild to severe. While the signs of the disease typically appear in childhood, the disease is often not diagnosed because many symptoms mimic other diseases such as rheumatoid or juvenile arthritis. However, there have been some instances where people do not experience any symptoms until well into adulthood. In addition to impaired kidney function, symptoms of Fabry disease include:
A genetic or “family” disease, Fabry Disease is passed down from a parent to his or her children. The defective gene associated with Fabry is inherited through the mother and is located on the X chromosome. If a person has the Fabry gene, he or she can pass the gene on to their children. There is a difference in the way males and females pass the gene on to their children. Males with Fabry disease pass the gene on to all of their daughters, but not sons, while females with Fabry disease can pass the gene on to both their daughters and sons.
Genetic testing can be used to confirm a diagnosis of Fabrys Disease. Due to the progressive nature of the disease, early diagnosis and intervention is important. Once a mutation is found it is easy to screen the rest of the family.
Since 1969, The American Association of Kidney Patients has been a patient-led organization driving policy discussions on kidney patient care choice and medical innovation. Over the past decade, AAKP patient advocates have helped advance lifetime transplant drug coverage for kidney transplant recipients (2020); the Presidential Executive Order on Advancing American Kidney Health (2019); new job protections for living organ donors under the Family Medical Leave Act (FMLA) via the U.S. Department of Labor (2018); and Congressional legislation allowing HIV-positive organ transplants for HIV-positive patients (2013). Follow AAKP on social media at @kidneypatient on Facebook, @kidneypatients on X, and @kidneypatients on Instagram, and visit www.aakp.org for more information
GALAFOLD® (migalastat) is an oral precision medicine developed by Amicus Therapeutics for the treatment of Fabry disease in adults with amenable genetic mutations. GALAFOLD® works as a pharmacological chaperone, stabilizing the body’s own dysfunctional enzyme, alpha-galactosidase A, enhancing its activity and reducing the buildup of globotriaosylceramide (GL-3) in cells. This treatment offers an alternative to enzyme replacement therapy, providing significant benefits in terms of convenience and patient compliance. Approved for use in over 40 countries, GALAFOLD® represents a significant advancement in the management of Fabry disease, improving the quality of life for those affected by this genetic disorder.
Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a pipeline of cutting-edge, first- or best-in-class medicines for rare diseases. For more information, please visit the company’s website at www.amicusrx.com, and follow on X and LinkedIn.
We are an innovative global healthcare company, driven by one purpose: we chase the miracles of science to improve people’s lives. Our team, across the world, is dedicated to transforming the practice of medicine by working to turn the impossible into the possible. We provide potentially life-changing treatment options and life-saving vaccine protection to millions of people globally, while putting sustainability and social responsibility at the center of our ambitions.
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