Fabry Disease Clinical Trials and Treatments

Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A, leading to progressive accumulation of globotriaosylceramide in cells throughout the body. This substrate accumulation damages the vascular endothelium, resulting in progressive dysfunction of multiple organ systems. Males typically present in childhood with severe acroparesthesia (burning pain in extremities), angiokeratomas (characteristic dark skin lesions), and ocular manifestations.

The most common symptoms of Fabry Disease include Burning pain in hands and feet (acroparesthesia), especially triggered by heat or exercise, Dark red to purple skin lesions (angiokeratomas), Cloudy vision or eye pain, Heart palpitations and irregular heartbeat, Hearing loss, among others. Fabry Disease affects approximately 1 in 40,000 to 60,000 males; higher in females when accounting for carrier status. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Fabry Disease from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Fabry disease trials today include one-time gene therapies, new pills and studies that follow people on the approved medicines. uniQure's gene therapy AMT-191 is in a recruiting Phase 1/2 trial (NCT06270316).

Yes. As of October 21, 2026, 3 FDA-approved medicines have a current label that names Fabry Disease: Elfabrio (pegunigalsidase alfa), first approved in 2023; Fabrazyme (agalsidase beta), first approved in 2003; and Galafold (migalastat), first approved in 2018. Corticosteroids and immune globulins count once each.

Fabry Disease is caused by variants in the GLA gene. Heterozygous females are often symptomatic, so GLA sequencing rather than enzyme assay alone is needed to diagnose women.

It is X-linked, so it is usually more severe in males, and a carrier mother has a 1 in 2 chance of passing the variant to each child. The condition affects approximately 1 in 40,000 to 60,000 males; higher in females when accounting for carrier status. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Fabry Disease looks at the GLA gene. Heterozygous females are often symptomatic, so GLA sequencing rather than enzyme assay alone is needed to diagnose women.

It is X-linked, so it is usually more severe in males, and a carrier mother has a 1 in 2 chance of passing the variant to each child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Fabry Disease clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Fabry Disease clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.