Fabry disease is caused by a mutation in the GLA gene, resulting in the body producing less of an enzyme called alpha-galactosidase A. This leads to the accumulation of a fatty substance called globotriaosylceramide (Gb3 or GL-3) inside cells, which damages organs and systems such as the kidneys, heart, skin, brain, nerves, and intestinal tract.

Gene therapy for Fabry disease is designed to introduce a healthy copy of the GLA gene to restore normal levels of the alpha-galactosidase A enzyme. The approach is still in the experimental stages.

How gene therapy works

Every cell in the body contains genes that carry instructions to make specific proteins. Gene therapy works by inserting new, properly functioning copies of genes into the body to replace mutated ones that are not working correctly.

New genes are introduced into the cell using a vector, a “gene carrier” that is usually a virus modified so that it is no longer harmful. Once inside the cell, the new gene is incorporated into the cell’s own DNA and can be used by the cell to make protein normally.

Gene therapy is a technique that is being investigated as a treatment for many diseases, including cancer and neurodegenerative disorders.

Gene therapy for Fabry disease

Gene therapy has been successfully used in animal models of Fabry disease to raise levels of the alpha-galactosidase A enzyme and clear Gb3 buildup in organs.

The approach has also been tested in humans, and in 2017, a Canadian man became the first person to receive the gene therapy compound AVR-RD-01 developed by Avrobio to treat Fabry disease. Researchers collected his blood stem cells, modified them with a lentiviral vector, a type of viral vector, which was carrying a healthy copy of the GLA gene, and reinserted them into his body. The patient’s alpha-galactosidase A levels were at normal levels at 45 days and six months after receiving AVR-RD-01, with the patient appearing to tolerate the compound well.

An open-label Phase 1 clinical trial (NCT02800070) for AVR-RD-01 is currently ongoing and recruiting up to six participants in Canada, with plans underway for a Phase 2 clinical trial.

FLT190 is another experimental gene therapy being developed by Freeline. The company is planning to initiate a Phase 1/2 clinical trial.

Other details

Gene therapy is a relatively new technique, having been around for approximately the past 30 years. As scientists do not yet understand the full range of side effects that may occur as a result of gene therapy,  research is being conducted to develop the safest possible methods of administering this therapy to patients.


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