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Study identifier: NCT04815005 Synced from ClinicalTrials.gov · July 28, 2026
● Recruiting

HoFH, the International Clinical Collaborators Registry

Condition: Homozygous Familial Hypercholesterolemia  ·  Sponsor: University of Pennsylvania

PhaseN/A
Planned participants1000
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersNo

About this 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.

This description comes directly from the study's public registry record.

Talk to the study team

Marina Cuchel, MD, PhD  ·  2156627188  ·  mcuchel@pennmedicine.upenn.edu

Lauren Vincent, MRA  ·  2156155448  ·  laurv@pennmedicine.upenn.edu

Always discuss trial participation with your own doctor first.

Locations (4)

University of PennsylvaniaPhiladelphia, Pennsylvania, United StatesRecruiting
Department of Vascular Medicine, Amsterdam UMCAmsterdam, NetherlandsRecruiting
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape TownCape Town, South AfricaRecruiting
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of WitwatersrandJohannesburg, South AfricaRecruiting

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Source record: clinicaltrials.gov/study/NCT04815005