New Updates on Patients Taking Part in Studies of a Gene Therapy for Fabry Disease Have Been Released

Avrobio has released updates on patients in two clinical trials of a potential gene therapy for Fabry disease. According to the announcement, two patients taking part in a Phase 1 trial of the therapy continue to show encouraging results, and data from the first patient to be dosed in a Phase 2 study of the therapy is now available. For more detailed information you can view the source press release at Globe Newswire by clicking here.

About Fabry Disease

Fabry disease is an inherited condition that is caused by mutations in the GLA gene. This gene codes for an enzyme called alpha-galactosidase A (AGA), which is involved in breaking down globotriaosylceramid, a fatty substance. However, people with Fabry disease have changes to the GLA gene that prevent the enzyme from breaking down this fatty substance effectively. As a result, it can build up in cells and cause damage, resulting in many of the symptoms associated with the condition. Fabry disease can vary in severity and symptoms between people. People affected by the condition may experience pain episodes, particularly in their hands and feet, small red spots on their skin, and eye cloudiness, amongst other symptoms.

About the Investigational Gene Therapy

A gene therapy, called AVR-RD-01, is being investigated as a potential treatment for Fabry disease. It is believed to work by inserting a working copy of the GLA gene (underlying Fabry disease) into a patient, where it can help the patient to produce normal levels of the functional enzyme that they are missing.

The Phase 1 Study

The safety of AVR-RD-01 is being investigated in a Phase 1 clinical trial, which will involve up to six patients who have Fabry disease and have been receiving enzyme replacement therapy for at least six months. Eighteen months after receiving AVR-RD-01, the first patient to be treated shows levels of AGA enzyme activity above the diagnostic range for males with classic Fabry disease. This is also true for the second patient, who was treated six months ago. So far, the gene therapy appears to be relatively safe, with no serious adverse events linked to it (as of the data cut off point of 24/08/2018).

The Phase 2 Study

A Phase 2 trial will dose between eight and twelve treatment-naïve patients with the gene therapy. The first patient to take part in this study has shown AGA enzyme activity three months after treatment.


Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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