New Treatments & Clinical Trials for Fabry Disease

Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A, which leads to harmful buildup of certain fats in cells throughout the body. About 1 in 40,000 to 60,000 people have Fabry disease. Current treatment centers on enzyme replacement therapy, which provides the missing enzyme through regular infusions, and oral chaperone therapy for people with certain mutations.

What's actually going on in research

Trials are testing gene therapies that could provide a one-time treatment by giving patients the ability to produce their own alpha-galactosidase A. Researchers are also studying substrate reduction therapies that reduce production of the fat that builds up, next-generation enzyme replacements that may work better or require less frequent dosing, and treatments targeting specific organ damage from Fabry disease, particularly heart and kidney complications.

What to know before you search

Eligibility typically depends on confirmed genetic diagnosis, age, degree of organ involvement (especially heart and kidney function), and whether you've received prior enzyme replacement therapy.

What types of trials are currently open

• Gene therapy trials — Testing one-time treatments that deliver a working copy of the GLA gene, aiming for long-term enzyme production without regular infusions.
• Enzyme replacement trials — Testing new formulations of enzyme replacement therapy that may work better, last longer, or cause fewer infusion reactions than current options.
• Substrate reduction trials — Testing oral drugs that reduce production of the fat that builds up in Fabry disease, either alone or combined with enzyme replacement.
• Organ-specific trials — Studies focused on protecting or treating damage to specific organs, particularly the heart and kidneys.
• Long-term follow-up studies — Tracking patients over years to understand how well treatments prevent organ damage and how the disease progresses with different therapies.