There are two types of treatment that have been developed specifically for Fabry disease: enzyme replacement therapy (ERT), and oral chaperone therapy.Enzyme replacement therapy involves taking a lab-made enzyme to replace alpha-Gal A, the enzyme that is deficient in people with Fabry disease.The lab-made enzyme does the work of absent or defective alpha-Gal A enzyme, helping to prevent the buildup of the fatty substance in cells that takes place in Fabry disease.Fabrazyme (agalsidase beta) was approved for adults by the U.S. Food and Drug Administration (FDA) in 2003 and children ages 2 and older in 2021.In a real-world observational study of 82 patients, the drug helped slow the decline of renal function compared with people who didn’t receive treatment, according to a statement by Sanofi, the company who manufactures Fabrazyme.Investigators also found that 28 percent of Fabrazyme-treated patients (14 out of 51) experienced a clinically significant event (renal, cardiac, cerebrovascular, or death) compared with 42 percent placebo-treated patients (13 out of 31).Elfabrio (pegunigalsidase alfa-iwxj) was approved to treat adults with Fabry disease in May 2023, according to a release by Chiesi and Protalix, the makers of the drug. Elfabrio is a PEGylated enzyme, which allows for it to remain longer in the bloodstream — referred to as having a longer half-life — and also reduces immunogenicity (anti-drug antibody development) in patients.The clinical trials didn’t establish that the extended half-life (compared with Fabrazyme) means that Elfabrio is safer or more effective than Fabrazyme, according to the company’s release.The clinical trials for Elfabrio were non-inferiority efficacy trials in which the drug demonstrated that it was just as effective as Fabrazyme in slowing the decline of kidney function, in addition to extending drug plasma coverage (half life) and lowering immunogenicity.However, the authors of a phase 1-2 clinical trial to evaluate the pharmacokinetics of pegunigalsidase alfa and assess efficacy, safety, and tolerability of the drug concluded that the drug “may improve the safety and clinical response to” enzyme replacement therapy in people with Fabry disease.How Is ERT Administered?ERT is administered via intravenous (IV) infusion every two weeks. The infusion is given every two weeks for life. If at any point ERT is stopped, the fatty substance known as globotriaosylceramide (Gb3) begins accumulating in cells again, and Fabry symptoms and damage to other organs will progress again, says Atta.ERT infusions can be given at a hospital, doctor’s office, infusion center, or at home. It’s recommended that patients discuss which setting is best with their doctor.Potential Problems With Enzyme TherapySome people experience an allergic reaction to enzyme replacement therapy for Fabry disease, which is mostly limited to fever, chills, and headache, although life-threatening reactions have also been reported, according to a paper published in January 2021 in the International Journal of Molecular Sciences. To help prevent such a reaction, you may receive an antihistamine or other medications before the infusion, according to the Cleveland Clinic.Treatment with enzyme replacement therapy can also cause the formation of anti-drug antibodies which can make the therapy less effective, according to an paper published in August 2018 in the Journal of the American Society of Nephrology.
