Actively Recruiting
HoFH, the International Clinical Collaborators Registry
Led by University of Pennsylvania · Updated on 2025-12-18
1000
Participants Needed
4
Research Sites
518 weeks
Total Duration
On this page
Sponsors
U
University of Pennsylvania
Lead Sponsor
U
University of Amsterdam
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
HoFH, the International Clinical Collaborators Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) confirmed clinically or by genetic testing
You will not qualify if you...
- No diagnosis of homozygous familial hypercholesterolemia (HoFH)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 4 locations
1
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
2
Department of Vascular Medicine, Amsterdam UMC
Amsterdam, Netherlands
Actively Recruiting
3
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
Cape Town, South Africa
Actively Recruiting
4
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Johannesburg, South Africa
Actively Recruiting
Research Team
M
Marina Cuchel, MD, PhD
CONTACT
L
Lauren Vincent, MRA
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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