There is currently no cure for Fabry disease, but there are treatment options that can help with symptom management, slow the progression of disease, and improve quality of life. We are fortunate to have three Health Canada approved therapies offering patients differentiated treatment options.
Enzyme Replacement Therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. In the case of Fabry disease, the enzyme that is deficient is called α‐galactosidase A (α‐Gal A) enzyme. Enzyme replacement therapy does not affect the underlying genetic defect, but increases the concentration of enzyme in which the patient is deficient. ERT implies life-long treatments with regular and frequent intravenous infusions of enzyme biweekly throughout the patient’s life. There are two Enzyme Replacement Therapy drugs approved by Health Canada. The generic names for these drugs are agalsidase alfa and agalsidase beta. The trade names for these drugs are Replagal® and Fabrazyme®. ERT was approved in Canada for the treatment of Fabry disease in 2004 and should be considered in all patients with documented Fabry disease, of any age and either sex, who meet disease-specific criteria.
The most recent clinical guidelines and criteria for the use of ERT in Canada can be read in detail here.
Many individuals with Fabry disease make some a-Gal A enzyme that is capable of degrading substrate. However, because of a genetic mutation, the produced enzyme is not effectively delivered to lysosomes to reduce GL-3.
Galafold is an oral, small molecule drug designed to bind to, and stabilize the a-Gal A that is made in the patient’s own cells, with the intention of enabling its trafficking to lysosomes (designed to act as a “pharmacological chaperone”). Once delivered to lysosomes, the a-Gal A enzyme can degrade the accumulated GL-3. This approach is designed for patients with amenable mutations that could be capable of responding to oral Galafold as a monotherapy treatment on the basis of their genotype. You can learn if your mutation is amenable by asking your Fabry specialist.
To view the Galafold Product Monograph, please click here.
Substrate Reduction Therapy (SRT) uses an orally available, small molecule drug that inhibits the first committed step in glycosphingolipid biosynthesis. The objective of SRT is to curb the synthesis or production of substrate which is not degraded and therefore accumulates. Using this method, the synthesis of a particular molecule is decreased with the aim of creating a better balance between synthesis (controlling the production of substrate) and degradation (controlling how much needs to be degraded and stored).
Gene Therapy is a treatment approach that involves introducing genetic material into a person’s cells to fight or prevent the disease. The first Fabry man to receive Gene Therapy in a Phase I clinical study was in 2017 in Canada. Studies are now being enrolled to do further investigation.
Clinical Trials for Fabry Disease
To learn more about which clinical studies are happening for Fabry disease go to clinicaltrials.gov
Research is ongoing and new therapies are currently under development.
Please visit our News & Events section for the latest updates in Fabry disease research.
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