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HoFH, the International Clinical Collaborators Registry (HICC)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04815005
Recruitment Status : Recruiting
First Posted : March 24, 2021
Last Update Posted : September 29, 2022
Sponsor:
Collaborators:
University of Amsterdam
University of Cape Town
University of Witwatersrand, South Africa
Information provided by (Responsible Party):
University of Pennsylvania

Study Description
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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.

Condition or disease Intervention/treatment
Homozygous Familial Hypercholesterolemia Other: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Detailed 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)

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Day
Official Title: HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Actual Study Start Date : January 24, 2017
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2025

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
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.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.


Outcome Measures
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Primary Outcome Measures :
  1. Number of participants entered into the database [ Time Frame: Through study completion, an average of 8 years ]
    Number of study participants with homozygous familial hypercholesterolemia


Secondary Outcome Measures :
  1. Untreated and treated LDL-C levels across world income regions [ Time Frame: Through study completion, an average of 8 years ]
    Number of treated versus number of untreated subjects with relevant LDL-C levels


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • No diagnosis of HoFH
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04815005


Contacts
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Contact: Marina Cuchel, MD, PhD 2156627188 mcuchel@pennmedicine.upenn.edu
Contact: Lauren Vincent, MRA 2156155448 laurv@pennmedicine.upenn.edu

Locations
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United States, Pennsylvania
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Marina Cuchel, MD, PhD    215-662-7188    mcuchel@pennmedicine.upenn.edu   
Contact: Lauren Vincent, MRA    2156155448    laurv@pennmedicine.upenn.edu   
Principal Investigator: Marina Cuchel, MD, PhD         
Netherlands
Department of Vascular Medicine, Amsterdam UMC Recruiting
Amsterdam, Netherlands
Contact: G. Kees Hovingh, MD, PhD       g.k.hovingh@amsterdamumc.nl   
Principal Investigator: G. Kees Hovingh, MD, PhD         
South Africa
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town Recruiting
Cape Town, South Africa
Contact: Dirk J Blom       dirk.blom@uct.ac.za   
Principal Investigator: Dirk J Blom         
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand Recruiting
Johannesburg, South Africa
Contact: Frederick J Raal       frederick.raal@wits.ac.za   
Principal Investigator: Frederick J Raal, PhD         
Sponsors and Collaborators
University of Pennsylvania
University of Amsterdam
University of Cape Town
University of Witwatersrand, South Africa
Investigators
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Principal Investigator: Marina Cuchel, MD, PhD University of Pennsylvania
More Information
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Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

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Responsible Party: University of Pennsylvania
ClinicalTrials.gov Identifier: NCT04815005    
Other Study ID Numbers: HICC
First Posted: March 24, 2021    Key Record Dates
Last Update Posted: September 29, 2022
Last Verified: September 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University of Pennsylvania:
Homozygous Familial Hypercholesterolemia
Autosomal Dominant
Hypercholesterolemia
Autosomal Recessive Hypercholesterolemia
Registry
Additional relevant MeSH terms:
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Hyperlipoproteinemia Type II
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
 Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias