Fabry disease


Is there a treatment for Fabry disease?

Currently there are two medications approved by the Federal Food and Drug Administration (FDA) for treatment of Fabry disease in the United States: a enzyme replacement therapy (ERT) and a chaperone therapy.

The FDA approved enzyme replacement therapy (ERT) treatment for Fabry disease in the United States is called Fabrazyme®, or agalsidase beta, and it made by a company called Sanofi Genzyme Corporation. The goal of ERT is to replace the enzyme missing in individuals with Fabry disease, with artificial or recombinant alpha-Galactosidase A or alpha-Gal, so that their body can breakdown stored glycolipids and prevent them from being stored in cells within the body. Patients getting ERT are infused every other week and receive the enzyme by an intravenous (IV) infusion. When began early in the course of the disease, replacing the enzyme helps slow the progression of the disease, reduces complications, and may even prevent long-term complications. Fabrazyme® is a treatment that can be given to individuals with any mutation or change in the GLA gene.

The FDA approved chaperone therapy for Fabry disease in the United States is called Galafold®, or migalastat, and it made by a company called Amicus Therapeutics. Galafold® is pill taken every other day that is designed to help an individual with Fabry disease's own enzyme work more effectively (chaperone therapy). Galafold® only works for specific mutations in the GLA gene that are considered "amenable". Individuals with Fabry disease can talk to their doctors to learn if they may be able to take Galafold and check to see if their GLA change is considered at the GLA mutation search website.

Along with ERT and chaperone therapy, there are also treatments available to help relieve some of the other symptoms associated with Fabry disease. Drugs such as diphenylhydantoin, carbamazepine and gabapentin have been helpful in reducing nerve pain and tingling in the extremities of individuals with Fabry disease. Individuals with proteinuria and/or high blood pressure may be prescribed blood pressure lowering medicines called angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs). These medications have been found to protect the kidneys and decrease the amount of protein in the urine. Lastly, to help relieve some of the gastrointestinal discomfort, medications such as Reglan (metoclopramide) can be used to help the stomach empty, Zofran (ondansetron) to reduce nausea and vomiting, pancreatic enzymes to aid digestion, and Imodium (loperamide) to decrease hyperactive contractions in patients with diarrhea. Some people with Fabry also find that eating small meals, taking probiotics, and avoiding spicy, lactose-containing, or greasy foods also help decrease GI issues.

For more information about Fabry disease treatment please talk to your Fabry doctor or find a Fabry center at the National Fabry Disease online resource.

Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.

Laney, D., Bennett R.L., Clarke V., Fox, A., Hopkin, J., Johnson, J., et al. (2013). Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 22, 555-564.

National Fabry Disease Foundation - Fabry Disease Treatment. (n.d.). Retrieved November 22, 2019, from http://www.fabrydisease.org/index.php/about-fabry-disease/fabry-disease-treatment.

Galafold: An oral treatment option for certain people with Fabry disease. (n.d.). Retrieved from http://www.galafold.com/.

Fabry disease revisited: Management and treatment recommendations for adult patients. Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review. https://www.sciencedirect.com/science/article/pii/S1096719217307680?via%3Dihub Retrieved 12DEC19.

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