Fabry Disease is the number number two Lysosomal Storage disease in terms of numbers affected.
It is an X-linked disease, with males passing on the mutated allele to all of their daughters, who then have a 50/50 chance of passing on the mutated allele to their children. Unlike many X-linked recessive diseases in which females are true carriers of the disease, and do not themselves show symptoms, Fabry disease’s females may express symptoms. Males are affected along a continuum. There is some evidence, from one large, state-wide genetic study in the United States that mutated alleles for Fabry disease may be much more prevalent than previously thought.
There is no cure and no perfect treatment for Fabry, so it is good news to report on yet another clinical trial.
Protalix BIOTHERAPEUTICS is an Israeli company which successfully developed an FDA approved treatment for Gaucher disease, a lysosomal storage disease.
Since everyone is different, and reacts to medications differently it is good to have alternatives, but the Gaucher community was already lucky enough to have two Infused therapies: Cerezyme and Vpriv, as well as an oral medication Cerdelga. Then Protalix added a third infused therapy called Elelyso.
Now they have turned their attention to Fabry which can really use some new therapeutics! In the USA there is only one approved enzyme replacement therapy called Fabrazyme®. It’s worth mentioning that Europe has one additional treatment available, an infusion called Replagal®.
Protalix has already delivered the first doses of its new, plant-based therapy for Fabry disease in their phase III clinical trial, called BALANCE.
Everyone in the study will receive some medication- either the already approved Fabrazyme or the new investigative drug. In this double-blind study, neither the patients nor the doctors will know which medication is being dripped into their bodies. All patients will be carefully monitored during the study.
If you are between the ages of 18 and 60 and are experiencing symptoms of Fabry disease and have already been receiving infusions of Fabrazyme, you may be eligible for this study. There are locations in: AL, GA, IA, MI, NY, OH, PA, TX and UT, as well as12 additional countries. If you are considering helping push therapeutic research for Fabry along, check out this trial here.
There may be additional therapeutic options in the future. Gene therapy is being investigated by the Canadian Institutes of Health and Sangamo Biosciences in California. The latter is looking at inserting a permanent solution in gene-gene editing. Additionally, a new approach dubbed chaperone therapy, is lauded in a 2015 Pub Med article: “This approach shows significant advantages when compared with existing therapies, particularly in terms of the bioavailability of drugs, oral administration and positive impact on the quality of patients’ lives.”
