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HoFH, the International Clinical Collaborators Registry
HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH
About the study
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 is being tested
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence. (other)
Sponsor: University of Pennsylvania · Participants: 1,000 · Started: Jan 24, 2017
Contact the study team
- Marina Cuchel, MD, PhD · Phone: 2156627188
- Lauren Vincent, MRA · Phone: 2156155448
Official record on ClinicalTrials.gov — NCT04815005
Locations in the U.S.
| Pennsylvania | University of Pennsylvania, Philadelphia |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.