Homozygous Familial Hypercholesterolemia Clinical Trials

Homozygous Familial Hypercholesterolemia is one of the most severe genetic cholesterol disorders. People with HoFH have genetic mutations that severely impair their ability to remove LDL (bad) cholesterol from the blood, resulting in cholesterol levels 4 times higher than normal. This causes premature and aggressive atherosclerosis, with coronary artery disease developing in childhood rather than adulthood.

The most common symptoms of Homozygous Familial Hypercholesterolemia include Extremely high LDL cholesterol (usually above 400 mg/dL, often 500 to 1,000 mg/dL), Fatty lumps on tendons, especially the Achilles tendon and hand tendons, Yellowish deposits around eyelids (xanthelasmas), Early signs of heart disease or heart attack in childhood, Coronary artery disease symptoms in childhood or early adulthood, among others. Approximately 1 in 250,000 to 1 in 360,000 people globally. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Homozygous Familial Hypercholesterolemia 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. Evinacumab (Evkeeza) is an FDA-approved add-on therapy for HoFH patients aged 5 and older, given as a monthly infusion. It reduces LDL cholesterol by approximately 49% when combined with maximum-dose statin therapy.

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Homozygous Familial Hypercholesterolemia. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Homozygous Familial Hypercholesterolemia is caused by variants in the LDLR, APOB, PCSK9 and LDLRAP1 genes. HoFH means two pathogenic FH alleles (usually LDLR), producing the severe childhood-onset form; LDLR is by far the most common gene.

It follows autosomal dominant (HoFH requires pathogenic variants on both alleles); LDLRAP1 is autosomal recessive inheritance. Approximately 1 in 250,000 to 1 in 360,000 people globally. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Homozygous Familial Hypercholesterolemia looks at the LDLR, APOB, PCSK9 and LDLRAP1 genes. HoFH means two pathogenic FH alleles (usually LDLR), producing the severe childhood-onset form; LDLR is by far the most common gene.

It follows autosomal dominant (HoFH requires pathogenic variants on both alleles); LDLRAP1 is autosomal recessive inheritance.

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 Homozygous Familial Hypercholesterolemia 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 Homozygous Familial Hypercholesterolemia 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.