Fabry disease is a rare genetic condition where the body can't break down a specific fat, causing it to build up in cells throughout the body. It affects about 1 in 40,000 to 60,000 people and can damage the kidneys, heart, and nervous system over time. Treatment includes enzyme replacement therapy and a newer pill that helps some people with certain gene variants.
What's actually going on in research
Trials are testing next-generation enzyme replacements with longer-lasting effects, gene therapies that aim to provide a permanent fix, and chaperone molecules that help stabilize the body's own defective enzyme. Researchers are also studying substrate reduction therapy, which reduces production of the fat that builds up, and combination approaches that pair existing treatments.
Gene therapy
Several trials are testing one-time treatments that deliver a working copy of the gene into liver cells. Early results suggest the liver can then produce the missing enzyme on its own.
Long-acting enzymes
New enzyme replacement formulas are designed to last longer in the body, potentially allowing infusions every few weeks instead of every two weeks. Some are also engineered to reach affected tissues more effectively.
Substrate reduction
A different approach reduces how much of the problem fat the body makes in the first place. This strategy could work alongside enzyme therapy or help people who develop antibodies against replacement enzymes.
What to know before you search
Eligibility often depends on genetic confirmation of Fabry disease, specific gene variants, disease severity, kidney or heart function, and whether you're currently on treatment.
What types of trials are currently open
- Gene therapy trials — Testing one-time treatments that deliver a working gene, aiming to provide lasting production of the missing enzyme without regular infusions.
- Enzyme trials — Testing new or improved enzyme replacement therapies, often comparing them to existing treatments or testing different dosing schedules.
- Chaperone trials — Testing pills that help stabilize the body's own defective enzyme in people with specific gene variants that respond to this approach.
- Substrate reduction trials — Testing drugs that reduce production of the fat that accumulates, either alone or combined with enzyme therapy.
- Long-term registries — Following people with Fabry disease over many years to understand disease progression and how different treatments affect outcomes.
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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