Fabry Disease Treatment

The effective management of Fabry disease requires a multidisciplinary approach. Comprehensive treatment includes intravenously administered enzyme replacement therapy (ERT) or Oral Chaperone Therapy, conventional medical treatment, and adjunct therapies, and may include lifestyle modifications and prophylactic medications.

One commercially approved Fabry disease specific treatment available in the US and elsewhere is an Enzyme Replacement Therapy (ERT) called agalsidase beta (Fabrazyme®) produced by Sanofi. It is administered by intravenous infusion usually every two weeks. The approved dose is 1 milligrams per kilogram of body weight.

Another commercially approved Fabry specific treatment is an intravenous ERT called agalsidase alfa (Replagal®) produced by Takeda. It is also administered by intravenous infusion usually every two weeks. The approved dose is 0.2 milligrams per kilogram of body weight. Replagal is available in many countries but is not available in he U.S.

Another commercially approved Fabry specifc treatment for in the U.S. and in many other countries is an oral chaperone therapy called migalastat (Galafold^TM) produced by Amicus Therapeutics. Galafold treatment consists of taking the medication in a capsule form by mouth every other day which significantly decreases the transportation burden for enzyme replacment therapy, and is much easier to administer. Galafold is suitable for those who have been tested and have ammenable GLA gene variants.

The most recent comercially approved Fabry specific treatment is pegunigalsidase alfa-iwxj (Elfabrio®j produced by Protalix outside the US and Chiesi in the US. It is administered by intravenous infusion usually every two weeks. The approved dose is 1 milligram per kilogram of body weight.

Medications such as antihistamines and others are often given prior to infusions to lessen the chance of infusion related reactions and sometimes are given after infusions. Some medications like amiordarone and qloroquine may interfere with the effectiveness of Fabrazyme®. Consult your physician.

Albuminuria/proteinuria, if present, is often treated along with other therapies to prolong kidney health.

Several other treatments are being investigated in clinical trials including: a substrate reduction therapy by Sanofi, and gene therapy potential solutions by Sangamo Therapeutics, 4D Molecular Therapeutics, Freeline, M6P Therapeutics, Codexis, uniQure, Sigalon Therapeutics, and Spark Therapeutics.

as of: 5-31-2023