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Homozygous Familial HypercholesterolemiaGeneticsRare disease

What this study is

Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.

What's being tested

  • Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

    Intervention · OTHER

    Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.

Study details

Official title
HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Sponsor
University of Pennsylvania
Conditions
Homozygous Familial Hypercholesterolemia
Enrolling
1,000 people
Starts
2017-01-24
Est. completion
2026-12-31
Record
View on ClinicalTrials.gov ↗