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Recruiting NCT04815005

NCT04815005 HoFH, the International Clinical Collaborators Registry

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Clinical Trial Summary
NCT ID NCT04815005
Status Recruiting
Phase —
Sponsor University of Pennsylvania
Condition Homozygous Familial Hypercholesterolemia
Study Type OBSERVATIONAL
Enrollment 1,000 participants
Start Date 2017-01-24
Primary Completion 2026-12-31

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age N/A
Study Type OBSERVATIONAL
Interventions
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 1,000 participants in total. It began in 2017-01-24 with a primary completion date of 2026-12-31.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

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.

Eligibility Criteria

Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH

Contact & Investigator

Central Contact

Marina Cuchel, MD, PhD

✉ mcuchel@pennmedicine.upenn.edu

📞 2156627188

Principal Investigator

Marina Cuchel, MD, PhD

PRINCIPAL INVESTIGATOR

University of Pennsylvania

Frequently Asked Questions

Who can join the NCT04815005 clinical trial?

This trial is open to participants of all sexes, studying Homozygous Familial Hypercholesterolemia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT04815005 currently recruiting?

Yes, NCT04815005 is actively recruiting participants. Contact the research team at mcuchel@pennmedicine.upenn.edu for enrollment information.

Where is the NCT04815005 trial being conducted?

This trial is being conducted at Philadelphia, United States, Amsterdam, Netherlands, Cape Town, South Africa, Johannesburg, South Africa.

Who is sponsoring the NCT04815005 clinical trial?

NCT04815005 is sponsored by University of Pennsylvania. The principal investigator is Marina Cuchel, MD, PhD at University of Pennsylvania. The trial plans to enroll 1,000 participants.

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ClinicalMetric — Independent clinical trial intelligence platform. Not affiliated with NIH, ClinicalTrials.gov, the U.S. FDA, or any pharmaceutical company, hospital, or clinical research organization. Trial data is sourced from ClinicalTrials.gov for informational purposes only and does not constitute medical advice. Do not make any treatment, enrollment, or health decisions based solely on information found here — always consult a qualified healthcare professional. Full Disclaimer  ·  Last Reviewed: November 2026  ·  Data Methodology