Registry for patients with homozygous familial hypercholesterolemia
HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
University of Pennsylvania · NCT04815005
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 |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | University of Pennsylvania (other) |
| Locations | 4 sites (Philadelphia, Pennsylvania and 3 other locations) |
| Trial ID | NCT04815005 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals diagnosed with homozygous familial hypercholesterolemia, regardless of the method of diagnosis.
Not a fit: Patients without a diagnosis of homozygous familial hypercholesterolemia will not benefit from this registry.
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 performed: 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.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH
Where this trial is running
Philadelphia, Pennsylvania and 3 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Homozygous Familial Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive Hypercholesterolemia, Registry