Fabrazyme is the first treatment developed specifically for Fabry disease.
It is an approved enzyme replacement therapy, which means that it replaces a critical enzyme that Fabry patients cannot produce in sufficient amounts. Sanofi Genzyme developed it.
How Fabrazyme works
Fabry disease is an inherited condition caused by a defect in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A.
Enzymes are proteins that help the body break down other molecules. Alpha-galactosidase A is responsible for breaking down a fatty molecule called globotriaosylceramide (Gb3 or GL-3) that cells produce.
Because people with Fabry disease cannot make enough functional alpha-galactosidase A, their body is unable to break down Gb3. This leads to a build-up of the molecule in various tissue and the symptoms associated with the disease.
Fabrazyme contains agalsidase beta, a copy of the missing enzyme alpha-galactosidase A. Administered as an infusion into the bloodstream once every two weeks, it helps Fabry patients break down Gb3.
Fabrazyme in clinical trials
The clinical trial that was played the key role in the U.S. Food and Drug Administration approving Fabrazyme was a Phase 3 study (NCT00074971) that evaluated its safety and effectiveness in 58 patients. The important finding was that it did a good job of clearing Gb3 from the kidneys.
A Phase 2 trial (NCT00074958) in 16 children aged 8-16 showed that Fabrazyme safely and effectively reduced Gb3 accumulation in the skin. The results suggested that early treatment might prevent damage from Gb3 deposits.
Sanofi Genzyme is investigating Fabrazyme in a number of ongoing trials as well. One is called the Registry study (NCT00196742). It involves doctors treating patients who are in a Fabry disease registry as the need arises. The goal is to evaluate its long-term safety and effectiveness.
A Phase 4 clinical trial (NCT00230607) is recruiting breastfeeding women with Fabry disease and their infants. It will look at the therapy’s effect on women’s milk production and their infants’ health. Participants will come from the U.S., Austria, and the U.K.
Researchers are comparing Fabrazyme to an enzyme replacement therapy that uses a different kind of alpha-galactosidase A enzyme in a Phase 3 trial (NCT02795676). The study is recruiting patients who have been treated with Fabrazyme for a year.
Participants will be randomly assigned to either Fabrazyme or the other therapy, PRX-102, for two years. Researchers will look at the treatments’ effects on kidney function and other measures. The trial is taking place at 43 locations across the world.
A second Phase 3 clinical trial (NCT03180840) of PRX-102 is recruiting Fabry disease patients who have been receiving Fabrazyme at least three years. Participants will switch to  PRX-102, taking it every four weeks for a year. The study will evaluate PRX-102’s safety and effectiveness, as well as how the body absorbs and processes it. It is taking place at 20 locations around the world.
In addition, two trials in Denmark are recruiting Fabry disease patients by invitation. One (NCT02969200) is evaluating Fabrazyme’s ability to improve kidney function long-term. The other (NCT02908724) is looking at how well Fabrazyme can treat patients’ heart problems, compared with those receiving no enzyme replacement therapy at all.
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