Fabry disease is a rare inherited disorder in which the body can't break down a certain type of fat, causing it to build up in organs and blood vessels. About 1 in 40,000 to 60,000 people have it. Treatment now includes enzyme replacement therapy and a pill that stabilizes the enzyme the body does make.
What's actually going on in research
Trials are testing gene therapy to give the body working instructions for making the missing enzyme, next-generation enzyme replacements that may work better or need less frequent dosing, and treatments aimed at specific complications like kidney disease and heart problems. Researchers are also studying substrate reduction therapy, which limits the fat the body makes in the first place.
Gene therapy
Studies are testing whether a one-time gene therapy can give cells the working copy of the GLA gene they need to make alpha-galactosidase A. Early results suggest sustained enzyme levels without ongoing infusions.
Next-generation enzyme replacement
New versions of enzyme replacement therapy are being tested to see if they reach organs better or allow less frequent dosing than current treatments. Some use modifications that help the enzyme get inside cells more efficiently.
Substrate reduction
Pills that reduce production of the fat that accumulates in Fabry disease are in trials. This approach works differently than replacing the missing enzyme and might be combined with existing treatments.
What to know before you search
Eligibility typically depends on genetic confirmation of Fabry disease, age, organ involvement, and whether you're already on enzyme replacement therapy.
What types of trials are currently open
- Gene therapy trials — Testing one-time treatments that aim to give the body working instructions for making alpha-galactosidase A, the enzyme people with Fabry disease lack or have in low amounts.
- Enzyme replacement trials — Testing new or improved versions of the infused enzyme treatment, often comparing them to existing enzyme replacement therapy.
- Substrate reduction trials — Testing pills that reduce production of the fat that builds up in Fabry disease, either alone or combined with enzyme replacement.
- Organ-specific trials — Testing treatments for kidney disease, heart problems, or nerve pain caused by Fabry disease.
- Long-term follow-up studies — Following people on treatment to learn how well therapies prevent organ damage over many years.
Recently added Fabry Disease trials
Complete a dental exam and survey to help understand gum disease in rare kidney conditions
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls. This is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data. The primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes. Exploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.
Complete a heart scan to help characterize rare heart conditions
This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes, including sarcomeric and non-sarcomeric HCM, Anderson-Fabry disease (AFD), and cardiac amyloidosis. The study will also include first-degree relatives of affected patients and genetic mutation carriers. By comparing myocardial blood flow and perfusion patterns across these different conditions, the study seeks to identify distinctive perfusion signatures that may improve diagnostic differentiation, support risk stratification, and provide insights into the role of ischemia in fibrosis progression, arrhythmias, and long-term outcomes.
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