Registry for patients with homozygous familial hypercholesterolemia
Official title: HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Run by University of Pennsylvania · NCT04815005 · Data updated 2026-11-12
This study is creating a registry to collect health information from people with homozygous familial hypercholesterolemia to better understand this rare condition and improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | University of Pennsylvania Academic / other |
| Locations | 4 sites (Philadelphia, Pennsylvania and 3 other locations) |
| Status | Recruiting |
| Started | January 24, 2017 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | December 18, 2025 |
| Trial ID | NCT04815005 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this registry are individuals diagnosed with homozygous familial hypercholesterolemia, regardless of the method of diagnosis.
✕Probably not a fit
Patients without a diagnosis of homozygous familial hypercholesterolemia will not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational registry collects de-identified clinical and genetic data from patients diagnosed with homozygous familial hypercholesterolemia (HoFH) worldwide. The goal is to advance understanding of this rare inherited disorder characterized by extremely high levels of LDL cholesterol and associated cardiovascular risks. Data is gathered at three key time points: diagnosis, enrollment, and at the time of the best lipid profile. The registry aims to provide a comprehensive overview of HoFH to inform future clinical practices and research.
Why it matters
Potential benefit: If successful, this registry could enhance understanding and management of homozygous familial hypercholesterolemia, leading to improved patient outcomes.
How similar studies have gone: Other registries and studies focusing on familial hypercholesterolemia have shown success in improving understanding and treatment approaches, making this initiative a valuable addition to existing knowledge.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH
Where it's running
-
University of Pennsylvania
Philadelphia, Pennsylvania, United States Recruiting -
Department of Vascular Medicine, Amsterdam UMC
Amsterdam, Netherlands Recruiting -
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
Cape Town, South Africa Recruiting -
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Johannesburg, South Africa Recruiting
Study contacts
- Principal investigator: Marina Cuchel, MD, PhD — University of Pennsylvania
- Study coordinator: Marina Cuchel, MD, PhD
- Email: mcuchel@pennmedicine.upenn.edu
- Phone: 2156627188
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Zodasiran for teens with homozygous familial hypercholesterolemia
This study tests whether subcutaneous Zodasiran can help adolescents with HoFH who have very high LDL-C despite lipid-lowering therapy.
-
Gene therapy for treating a rare cholesterol disorder
This study is testing a new gene therapy to see if it can help people with a rare cholesterol disorder called homozygous familial hypercholesterolemia lower their cholesterol levels.
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A repository for monitoring health in patients with homozygous familial hypercholesterolemia
This study is trying to gather health information from people with homozygous familial hypercholesterolemia to better understand their condition and find ways to improve their treatment.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.