Homozygous Familial HypercholesterolemiaHICCNCT04815005
HoFH, the International Clinical Collaborators Registry
An observational study of Homozygous Familial Hypercholesterolemia, run by University of Pennsylvania at 4 sites in 3 countries.
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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Homozygous Familial Hypercholesterolemia
- What is being tested?
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
- How many people
- 1,000 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 24 Jan 2017to 31 Dec 2026
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
Who cannot join
- No diagnosis of HoFH
Trial locations and contacts
4 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
4 sites in 3 countries
South Africa2 sites, 2 recruiting
- Recruiting
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
Cape Town
Dirk J Blom, dirk.blom@uct.ac.za
Dirk J Blom
- Recruiting
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Johannesburg
Frederick J Raal, frederick.raal@wits.ac.za
Frederick J Raal, PhD
United States1 site, 1 recruiting
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Marina Cuchel, MD, PhD, 215-662-7188, mcuchel@pennmedicine.upenn.edu
Lauren Vincent, MRA, 2156155448, laurv@pennmedicine.upenn.edu
Netherlands1 site, 1 recruiting
- Recruiting
Department of Vascular Medicine, Amsterdam UMC
Amsterdam
G. Kees Hovingh, MD, PhD, g.k.hovingh@amsterdamumc.nl
G. Kees Hovingh, MD, PhD
About this study
Official title: HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
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.
Read the 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)
- Conditions
- Homozygous Familial Hypercholesterolemia
- Being tested
- Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
- Keywords
- Homozygous Familial Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive Hypercholesterolemia, Registry
- Medical subject headings
- Homozygous Familial Hypercholesterolemia, Multiple Pterygium Syndrome, Autosomal Dominant, Hypercholesterolemia, Hyperlipoproteinemia Type III
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.Other
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
| Study group | Role | What they receive |
|---|---|---|
| HoFH | Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria. Receives: Other: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants entered into the database
Number of study participants with homozygous familial hypercholesterolemia
Measured: Through study completion, an average of 8 years
Secondary outcomes (1)
Untreated and treated LDL-C levels across world income regions
Number of treated versus number of untreated subjects with relevant LDL-C levels
Measured: Through study completion, an average of 8 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2021
- Study start24 Jan 2017
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Homozygous Familial HypercholesterolemiaStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Collaborators
- University of Amsterdam, University of Cape Town, University of Witwatersrand, South Africa
- Responsible party
- Sponsor
- Investigators
- Marina Cuchel, MD, PhD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04815005
- Sponsor's protocol ID
- HICC
- Acronym
- HICC
- Status last verified
- Dec 2025
- First submitted
- 4 Mar 2021
- Last updated
- 18 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 40250039Tromp 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.
PubMed 35101175
Study at a glance
From the registry record, last updated by the sponsor on 18 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
- ClinicalTrials.gov ID
- NCT04815005
- Acronym / sponsor ID
- HICC / HICC
- Conditions
- Homozygous Familial Hypercholesterolemia
- Keywords
- Homozygous Familial Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Recessive Hypercholesterolemia, Registry
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Collaborators
- University of Amsterdam, University of Cape Town, University of Witwatersrand, South Africa
- Study start
- 24 Jan 2017 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 24 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Day
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| HoFH | – | Other: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (1 listed)
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
Key exclusion criteria (1 listed)
- No diagnosis of HoFH
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide. | Other | HoFH |
Primary outcome
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
1 secondary outcome
Untreated and treated LDL-C levels across world income regions
Time frame: Through study completion, an average of 8 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Dec 2025.
- Derived from this study: PubMed 40250039Mulder 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.
- Derived from this study: PubMed 35101175Tromp 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marina Cuchel, MD, PhD principal investigator
University of Pennsylvania
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Homozygous Familial Hypercholesterolemia, run by University of Pennsylvania at 4 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in South Africa, United States, Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Marina Cuchel, MD, PhD (2156627188, mcuchel@pennmedicine.upenn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants entered into the database (time frame: Through study completion, an average of 8 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04815005, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Dec 2025.