Disease Directory Homozygous familial hypercholesterolemia
Rare Disease

Homozygous familial hypercholesterolemia

Type

Disease

Gene

ABCG5, ABCG8, APOB, LDLRAP1, PCSK9, LDLR

About Homozygous familial hypercholesterolemia

Homozygous familial hypercholesterolemia is a rare disease catalogued by Orphanet (ORPHA:391665). It is associated with the ABCG5, ABCG8, APOB genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Homozygous familial hypercholesterolemia trials.

Search ClinicalTrials.gov for "Homozygous familial hypercholesterolemia" or filter by Orphanet code ORPHA:391665 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:391665)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Homozygous familial hypercholesterolemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Homozygous familial hypercholesterolemia. Updated daily.