FDA Approves Investigational New Drug Application for Experimental Fabry Disease Therapy

According to a publication from Fabry Disease News, the U.S. Food and Drug Administration (FDA) has approved American biotechnology company Avrobio’s Investigational New Drug (IND) application for experimental Fabry disease drug candidate AVR-RD-01.

About Fabry Disease

Fabry disease is a rare genetic disease that stems from the buildup of a fat called globotriaosylceramide in the body.

The enzyme alpha-galactosidase A is responsible for breaking globotriaosylceramide down. Normally, instructions for production of alpha-galactosidase A are found on the X chromosome gene called GLA. In individuals with Fabry Disease, though, a mutation to GLA causes alpha-galactosidase A to form an irregular shape that renders it unable to bind to its intended target.  The result is a buildup of the lipid in cells throughout the entire body.

The resulting effects are varied, and can be serious. Episodes of pain in the hands and feet, hearing loss, gastrointestinal problems, eye clouding, and the appearance of red spots called angiokeratomas across the body are common symptoms. In advanced stages, serious heart and kidney complications can be occasionally fatal.

Because Fabry disease is X-linked, men are much more likely to develop the condition. Because men inherit only one copy of the X chromosome from their parents, only one faulty copy of GLA is enough to lead to Fabry disease. However, unlike most X-linked conditions, many women with just one mutated copy of GLA express symptoms of Fabry disease.

About AVR-RD-01

After securing the FDA’s approval of the IND, Avrobio is moving quickly to start its phase 2 trial of AVR-RD-01 in a study called FAB-201.

AVR-RD-01 is a gene therapy designed to deliver functioning copies of the GLA gene to the patient through the introduction of a genetically modified virus. Viruses are exceptionally small and skilled at infiltrating the body’s defense systems, and can inject segments of their own DNA into that of a host cell.

You might see where this is going. In a lab, scientists implant functioning copies of GLA into inert viruses – viruses that are still “alive” but do not carry any otherwise harmful material. The virus is then introduced to the patient.

In theory, the virus will “infect” cells throughout the body with what is actually the properly working form of the GLA gene.

Avrobio’s phase 2 FAB-201 study will likely address early questions about efficacy. Phase 2 is the first stage of clinical testing that is primarily concerned with determining the effectiveness of the experimental therapy at treating its target condition – earlier trials typically exist to establish safety of use in humans.

FAB-201 is set to begin later this year, and will follow up to a dozen late-and-post adolescent (16+) men for another 15 years – so it could be a while before you can expect to see AVR-RD-01 on a shelf near you.

What do you think about the investigation of gene therapies? Do you think the potential of gene therapy outweighs the lengthy research times? Why? Share your thoughts with Patient Worthy!

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