HoFH, the International Clinical Collaborators Registry

NCT04815005 | Recruiting

• 1 other identifier: HICC
• Study Type: observational
• Target: 1,000
• Locations: 3 countries
• Sites: 4

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

Keywords

Homozygous Familial Hypercholesterolemia; Autosomal Dominant; Hypercholesterolemia; Autosomal Recessive Hypercholesterolemia; Registry

Outcome Measures

Primary Outcomes (1)

• Number of participants entered into the database

  Number of study participants with homozygous familial hypercholesterolemia

  Through study completion, an average of 8 years

Secondary Outcomes (1)

• Untreated and treated LDL-C levels across world income regions

  Through study completion, an average of 8 years

Study Arms (1)

HoFH

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

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

Interventions

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

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

HoFH

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The registry aims to include data from as many patients diagnosed with HoFH as possible. All patients must be living at time of entry into the database or have been deceased within the last 5 years.

You may qualify if:

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

You may not qualify if:

• No diagnosis of HoFH

Sponsors & Collaborators

• University of Amsterdam: collaborator
• University of Cape Town: collaborator
• University of Witwatersrand, South Africa: collaborator
• University of Pennsylvania: lead

Study Sites (4)

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, 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

Related Publications (2)

• Mulder JWCM, Schonck WAM, Tromp TR, Reijman MD, Reeskamp LF, Hovingh GK, Blom DJ, Roeters van Lennep JE. Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia. Atherosclerosis. 2025 May;404:119187. doi: 10.1016/j.atherosclerosis.2025.119187. Epub 2025 Apr 3.

  PMID: 40250039 DERIVED

• Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28.

  PMID: 35101175 DERIVED

MeSH Terms

Conditions

Homozygous Familial Hypercholesterolemia; Multiple Pterygium Syndrome, Autosomal Dominant; Hypercholesterolemia; Hyperlipoproteinemia Type III

Interventions

Demography; Genotype

Condition Hierarchy (Ancestors)

Hyperlipoproteinemia Type II; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Population Characteristics; Epidemiologic Measurements; Public Health; Environment and Public Health; Genetic Phenomena

Study Officials

• Marina Cuchel, MD, PhD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Cuchel, MD, PhD

CONTACT

2156627188; mcuchel@pennmedicine.upenn.edu

Lauren Vincent, MRA

CONTACT

2156155448; laurv@pennmedicine.upenn.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 4, 2021
• First Posted: March 24, 2021
• Study Start: January 24, 2017
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: December 18, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1); NL (1); ZA (2)