Recruiting

Observational Study

Sponsor:

University of Pennsylvania

Code:

NCT04815005

Conditions

Homozygous Familial Hypercholesterolemia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Study Details

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.

Conditions

Homozygous Familial Hypercholesterolemia

Study ID

NCT04815005

Start date

Jan 24, 2017

Status verified date

Dec, 2025

Completion date

Dec 31, 2026

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined

Exclusion Criteria:

  • No diagnosis of HoFH

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

HoFH

Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.

Interventions

Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.

Primary outcome measure

  • Number of participants entered into the database [ Time Frame: Through study completion, an average of 8 years ]

Central Contacts and Locations

Central contacts

Marina Cuchel, MD, PhD

2156627188mcuchel@pennmedicine.upenn.edu

Lauren Vincent, MRA

2156155448laurv@pennmedicine.upenn.edu

Locations

University of Pennsylvania

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Marina Cuchel, MD, PhD

215-662-7188mcuchel@pennmedicine.upenn.edu

Lauren Vincent, MRA

2156155448laurv@pennmedicine.upenn.edu

Principal Investigator:

Marina Cuchel, MD, PhD

More Information

Sponsor

University of Pennsylvania

Last update posted

Dec 18, 2025

Last verified

Dec, 2025

Keywords

  • Homozygous Familial Hypercholesterolemia
  • Autosomal Dominant
  • Hypercholesterolemia
  • Autosomal Recessive Hypercholesterolemia
  • Registry

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by University of Pennsylvania on 2025-12-18.