Metabolic
Hereditary Hemochromatosis
Also known as HFE-related hemochromatosis, HFE hereditary hemochromatosis, iron overload disease
Hereditary hemochromatosis is the most common genetic disorder of iron metabolism in populations of Northern European descent, most often caused by homozygous C282Y mutations in the HFE gene. Unregulated intestinal iron absorption leads to
4
studies recruiting now
as of 7 Sept 2026
70
studies registered in total
as of 7 Sept 2026
19
countries with a recruiting site
as of 7 Sept 2026
28 Jan 2026
most recent study posted
among recruiting studies
Recruiting trials
A Study to Evaluate BBI-001 in Healthy Volunteers and in Patients With Hereditary Hemochromatosis
An Observational Study Evaluating Patients With Chronic Liver Diseases Associated With Hepatic Steatosis
China Registry for Genetic / Metabolic Liver Diseases
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Hereditary Hemochromatosis
Hereditary hemochromatosis is the most common genetic disorder of iron metabolism in populations of Northern European descent, most often caused by homozygous C282Y mutations in the HFE gene. Unregulated intestinal iron absorption leads to progressive iron deposition in the liver, heart, pancreas, joints, and endocrine glands. Clinical manifestations include liver cirrhosis, cardiomyopathy, diabetes mellitus, arthropathy, and hypogonadism. Phlebotomy (blood removal) remains the cornerstone of treatment.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Before you apply
Things trial teams commonly ask about for Hereditary Hemochromatosis. Not eligibility rules; those are set by each study.
- Serum ferritin and transferrin saturation are the primary eligibility biomarkers — document pre-treatment and current levels
- Liver iron concentration by MRI (MRI-LIC) or biopsy is often required for advanced disease trials
- Phlebotomy frequency and volume history should be thoroughly documented — some trials require maintenance phase stability
- Non-HFE forms (TFR2, HJV, HAMP mutations) are biologically distinct and may have separate or exclusionary eligibility criteria
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).