HoFH, the International Clinical Collaborators Registry

Homozygous Familial Hypercholesterolemia Clinical Trial

— HICC  

Official title:

HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04815005
• Other study ID #: HICC
• Status: Recruiting
• Start date: January 24, 2017
• Est. completion date: December 31, 2025

Study information

• Verified date: November 2023
• Source: University of Pennsylvania
• Contact: Marina Cuchel, MD, PhD
• Phone: 2156627188
• Email: mcuchel[@]pennmedicine.upenn.edu
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Description:

The HICC registry is an observational, multicenter, international registry collecting de-identified clinical and genetic information from patients with homozygous Familial Hypercholesterolemia (HoFH) worldwide.

Patients are eligible to be enrolled in the registry based on the diagnosis of HoFH by the treating clinician, irrespective of how the diagnosis was made. To generate up-to-date data reflecting current rather than historic practice, patients who died or were lost to follow-up prior to 2010 are excluded.

Anonymized data on demographics, type of HoFH diagnosis (clinical and/or based on the results of a genetic test), genetic results, (cardiovascular) medical history, relevant family history, physical examination, laboratory measurements, lipid lowering treatment and cardiovascular imaging are collected for 3 different time points: at diagnosis, at enrolment and at time of best lipid profile (if this is different from time at enrolment). Data are collected using pre-definite electronic case report forms to ensure uniformity of data collected. Primary analysis will be cross-sectional (e.g. based on country of residence, age, etc)

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 31, 2025
• Est. primary completion date: December 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• No diagnosis of HoFH

Related Conditions & MeSH terms

• Homozygous Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Other:
• Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.

Locations

Country	Name	City	State
Netherlands	Department of Vascular Medicine, Amsterdam UMC	Amsterdam
South Africa	Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town	Cape Town
South Africa	c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand	Johannesburg
United States	University of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (4)

Lead Sponsor	Collaborator
University of Pennsylvania	University of Amsterdam, University of Cape Town, University of Witwatersrand, South Africa

Countries where clinical trial is conducted

United States,  Netherlands,  South Africa, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of participants entered into the database	Number of study participants with homozygous familial hypercholesterolemia	Through study completion, an average of 8 years
Secondary	Untreated and treated LDL-C levels across world income regions	Number of treated versus number of untreated subjects with relevant LDL-C levels	Through study completion, an average of 8 years