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Dear Fabry Community,
During this challenging time with the global COVID-19 outbreak, it is all the more important we look out for and support one another. The safety and welfare of families affected by rare diseases always has been and continues to be Amicus’ number one priority. Our commitment to the rare disease community will continue and we are only a phone call or email away. For questions or support, we can be reached at patientadvocacy@amicusrx.com or toll-free in the US at 1(866) 9-AMICUS (926-4287). NP-NN-ALL-00020520

Managing Fabry Disease

Many factors should be considered when managing Fabry disease

Fabry disease is a chronic, progressive, multisystem disease.1,2 Managing such a disease relies on several key factors such as:

  • Initiating treatment early before irreversible organ damage occurs1
  • Carefully monitoring multiple organ systems3,4
  • Individualizing management (ie, specific genetic mutation, symptoms, and presentation of disease)3,4
  • Stabilizing disease progression in various organ systems5,6

Clinical vigilance and regular monitoring are vital

Even if no apparent symptoms are present at baseline or at follow-up appointments, complications involving the organs can still occur.4 For this reason, routine assessments and monitoring are key in the management of Fabry disease. In addition, baseline values should always be obtained.4

For recommended assessments and schedules for monitoring specific organs affected by Fabry disease, download the PDF now.

Management goal: disease stability

An important goal in the management of Fabry disease is achieving stability in the organ systems impacted by the disease.5,6 Stabilizing disease progression in both cardiac and renal systems is of particular importance, as damage to these 2 organ systems can have a life-threatening impact on patients.6,7 Management strategies should include the use of available imaging and laboratory tests to monitor cardiac and renal disease progression.6

Only 2 types of treatments are currently approved for Fabry disease

Two approved treatments approaches in use in certain countries are: 

  • Small-molecule chaperone therapy, which is currently available in the European Union, Switzerland, Japan, South Korea, Australia, Argentina, and the United States
  • Enzyme replacement therapy (ERT), which is currently available in countries globally

Small-molecule chaperone therapy

Small-molecule chaperones are designed to bind to active sites of certain mutant forms of the alpha-galactosidase A (alpha-Gal A) enzyme, stabilize them, and help restore the function of the natural enzyme.8,9 This binding and stabilization helps facilitate proper trafficking of alpha-Gal A to lysosomes. This helps to restore enzymatic activity of the mutant protein and reduce the accumulation of glycolipids in organ cells.8,9 Small-molecule chaperone therapy is continued over the course of a patient’s remaining lifetime.

Enzyme replacement therapy (ERT)

ERT is a type of infusion treatment that is designed to replace natural endogenous enzymes. For treating Fabry disease, ERT replaces the missing or deficient alpha-Gal A enzyme to reduce the accumulation of glycolipids in organ cells.10 ERT is injected slowly into the bloodstream through a vein, usually in the arm or hand. ERT is typically administered every other week and continues over the course of a patient’s remaining lifetime.8

More therapies are under development to treat Fabry disease

Substrate reduction therapy (SRT) is a type of therapy currently being studied in clinical research trials. The aim of SRT is to decrease biosynthesis of accumulating GL-3, lyso-Gb3, and other disease substrates in lysosomal disorders.8,11

Gene therapy, using various gene delivery systems, is in early-stage research for several diseases, including Fabry disease.9 Fabry disease is considered to be a suitable disease for gene therapy because target cells are readily accessible and the level of enzyme correction necessary to ameliorate disease may be relatively low.12

Learn more about current clinical research in Fabry disease.
Learn why genetic testing is
important to Fabry disease
diagnosis and management
Read Now
Find support organizations and other
information about Fabry disease
See Resources

References:

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
  2. Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641-659.
  3. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  4. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427.
  5. Mignani R, Pieruzzi F, Berri F, et al. FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease. Clin Kidney J. 2016;9(5):739-747.
  6. Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189-203.
  7. Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet. 2009;46(8):548-552.
  8. Alipourfetrati S, Saeed A, Norris JM, Sheckley F, Rastogi A. A review of current and future treatment strategies for Fabry disease: a model for treating lysosomal storage diseases. J Pharmacol Clin Toxicol. 2015;3(3):1-8.
  9. Suzuki Y. Emerging novel concepts of chaperone therapies for protein misfolding diseases. Proc Jpn Acad. 2014;90(5):145-162.
  10. National Organization for Rare Disorders. Fabry Disease. https://rarediseases.org/rare-diseases/fabry-disease. Accessed August 21, 2019.
  11. Coutinho MF, Santos JI, Alves S. Less is more: substrate reduction therapy for lysosomal storage disorders. Int J Mol Sci. 2016;17(17):E1065. doi:10.3390/ijms17071065
  12. Siatskas C, Medin JA. Gene therapy for Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:25-41; discussion 11-2.