Enzyme replacement therapy (ERT) is the main treatment for Fabry disease, although patients can be prescribed additional therapies and adjust their lifestyle to help improve their quality of life.

In addition to approved therapies, scientists are investigating a number of experimental approaches to treat the disease. These would need regulatory approval before patients could use them.

Enzyme replacement therapy

PRX-102 is an experimental ERT that’s similar to Fabrazyme, an approved ERT. It consists of a copy of the human enzyme alpha-galactosidase A, which is produced in genetically modified plant cells and then chemically modified. The manufacturer, Protalix Biopharmaceuticals, says this makes the enzyme molecule more active and stable than the active ingredient in Fabrazyme. PRX-102 is being tested in Phase 3 clinical trials.

Gene therapy

Gene therapy has been successful in animals, allowing them to make their own alpha-galactosidase A enzyme, the enzyme that is deficient in Fabry disease.

Several companies are working on developing gene therapies for Fabry disease. 

Avrobio is currently testing its gene therapy AVR-RD-01 in Phase 1/2 clinical trials. 

Freeline is developing FLT190 and is testing it in Phase 1/2 clinical trials.

Sangamo Therapeutics is testing ST-920 in Phase 1/2 clinical trials. 

Substrate reduction therapy

Venglustat is an oral treatment for Fabry disease. It blocks a step in the chemical process that forms Gb3, the fatty molecule that patients’ bodies are unable to break down. Its developer, Sanofi Genzyme, has been testing it in Phase 2 clinical trials.

Lucerastat is another experimental substrate reduction therapy, by Idorsia, now in advanced clinical studies for Fabry disease.

Apabetalone (RVX-208)

Apabetalone (RVX-208) is an oral medication being developed by Resverlogix for the treatment of Fabry disease, among others. It is a selective BET (bromodomain and extra-terminal) inhibitor that can regulate disease-causing genes. Researchers will test the treatment in a Phase 1/2 clinical trial.

 

Last updated: Aug. 20, 2020

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Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.