Familial HypercholesterolemiaFHSCNCT04272697
EAS Familial Hypercholesterolaemia Studies Collaboration
An observational study of Familial Hypercholesterolemia, run by Imperial College London at 1 site in United Kingdom.
Trial summary
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolemia
- How many people
- 75,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 22 Mar 2015to Dec 2030
- How long will I take part?
- 5 Years
- 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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients clinically and/or genetically diagnosed with familial hypercholesterolaemia (FH). Non-affected (non-FH) relatives of FH patients as healthy controls.
Who may be able to join
- Clinical and/or genetic diagnosis of heterozygous or homozygous familial hypercholesterolaemia (FH)
- Relatives of index cases without a diagnosis of FH where screening (cascade or other) is carried out.
- The data have been de-identified prior to transferring to the EAS FHSC Global Registry.
Who cannot join
- Secondary causes of dyslipidaemia (e.g. untreated hypothyroidism, cholestasis, nephrotic syndrome).
- Where data collection does not conform to the local or country wide standards for anonymised data.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
School of Public Health, Imperial College London
London, W6 8RP
EAS FHSC Coordinating Centre, +44 (0)20 7594 2771, coordinator@eas-fhsc.org
About this study
Official title: European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated.
Efforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites/countries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far.
Read more
The EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national/regional/local registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database.
The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.
Read the detailed description
Familial hypercholesterolaemia (FH) is a common genetic disorder affecting low-density lipoprotein cholesterol (LDL-C) metabolism, resulting in reduced catabolism of LDL particles and marked elevations in circulating LDL-C. If untreated, lifelong exposure to elevated LDL-C results in the development of atherosclerotic lesions early in life and a substantially increased risk of premature cardiovascular disease as compared to the general population. Early detection and effective treatment of FH can result in a significant improvement in clinical outcomes. Despite these compelling data, FH remains largely underdiagnosed with less than 5% of individuals with FH being identified in most regions around the world. Compounding its burden is the observation that FH is undertreated even among those with an established diagnosis.
The European Atherosclerosis Society (EAS) FH Studies Collaboration (FHSC) is a global initiative that was launched in 2015 to bring together a large-scale consortium of investigators and stakeholders involved in the care of people living with FH. The EAS FHSC ultimately seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The Coordinating Centre is based at the Imperial Centre for Cardiovascular Disease Prevention (ICCP), Imperial College London (ICL), UK. Currently investigators from over 65 countries are involved in the EAS FHSC network.
Specifically, the EAS FHSC aims to:
- Establish a worldwide, standardised registry of patients with FH by bringing together regional/national/international cohorts and registries with access to FH patients. This will allow the collaboration to maximise the exploitation of the data to accurately and reliably investigate (i) the burden of both homozygous FH (HoFH) and HeFH, (ii) how FH is detected and managed, (iii) the clinical consequences of current practice on delivery of care and outcomes, (iv) the factors that influence optimal management and LDL-C target attainment in FH.
- Disseminate the information gained from the registry to an international audience including physicians, other healthcare professionals, policy-makers and patients' organizations, to sensitise them to the contemporary burden of FH, encourage open discussion on FH management, promoting a uniform evidence-based standard-of-care, and encourage them to contribute actively to research.
- Consolidate a network of investigators interested in FH through which collaborative research and networking on FH can be conducted on a large-scale.
The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data were sourced from multiple resources of active multiple cohorts, registries, databases and collections with access to information on individuals with a clinical and/or genetic diagnosis of homozygous or heterozygous FH across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry by the respective data suppliers where data is pooled, harmonised and integrated into a single global database. The FHSC registry has been conceived with a long term strategy in mind, in order to increase the follow-up of patients, including new individuals diagnosed with FH over time, bringing new cohorts into the registry, and take into account temporal trends and changes in clinical practice.
Quality assurance was addressed by providing the data suppliers with the FHSC protocol, which sets out the criteria of minimal standards for data collection prior to submission to the FHSC Global Registry, ensuring data completeness and accuracy. The incoming data was collated, standardised in accordance with a data dictionary, cleaned and validated by coordinating data queries with the respective data suppliers, and integrated within a secure data warehouse.
The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. Standard validated statistical procedures and models for observational studies and weighted meta-analyses are being performed on the secondary data to address multiple scientific inquiries.
Further details, including FHSC protocol, are published open-access at:
FHSC Investigators. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001.
- Conditions
- Familial Hypercholesterolemia
- Keywords
- Familial hypercholesterolaemia, Primary dyslipidaemia, Cardiovascular disease prevention, LDL cholesterol, Genetic lipids disorders
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Heterozygous Familial Hypercholesterolaemia | Adults and children with Heterozygous Familial Hypercholesterolaemia. | |
| Homozygous Familial Hypercholesterolaemia | Adults and children with Homozygous Familial Hypercholesterolaemia | |
| Unaffected (non-FH) relatives of FH individuals | Adults and children with unaffected (non-FH) relatives of FH individuals |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis of Familial Hypercholesterolaemia
Type of FH (Heterozygous FH, Homozygous FH).
What clinical and/or genetic diagnostic criteria was used to diagnose FH.
In the case of clinical diagnosis, what criteria system was used (Dutch Lipid Clinics Network, MedPed, Simon-Broome, Japanese [JAS] guidelines criteria, Canadian FH criteria, or other to be specified), what is the likelihood of the diagnosis (possible, probable, definite) and the diagnostic score, and what criteria within the clinical diagnostic system were met (family history of cardiovascular disease [CVD], personal history of premature CVD, physical examination [xanthomas, arcus corneallis], LDL-Cholesterol levels).
In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified).
Age at diagnosis of FH.
Measured: Baseline
Change in Lipid levels from diagnosis of FH/baseline to follow up
Total cholesterol, LDL-Cholesterol, HDL-Cholesterol, Non-HDL-Cholesterol, Triglycerides, Apolipoprotein A, Apolipoprotien B, Lipoprotein(a)
Measured: Baseline and follow-up through study completion, average 5 years
Characteristics, vascular risk factors and cardiovascular comorbidity associated to FH patients
General and demographic characteristics, including gender, age, ethnicity, and world geographical region.
Cardiovascular Risk Factors, including hypertension, diabetes (and type I or II), smoking, body mass index, systolic and diastolic blood pressure, and family history of cardiovascular diseases (CVD).
Cardiovascular Diseases, including coronary artery disease, cerebrovascular disease and peripheral artery disease, and the age at diagnosis (i.e. premature or non-premature CVD).
Measured: Baseline
Change in Management of FH patients over time
Whether patient is on lipid-lowering medication or not. Among those on lipid-lowering medication, what drug, including statins, ezetimibe, PCSK9 inhibitors, other lipid-lowering drugs. In each case, type of drug within each class and dose.
Proportion of patients who met the guideline-recommended target attainment (LDL-C and non-HDL-C targets, based on the baseline cardiovascular risk) and associated factors.
Measured: Baseline and follow-up through study completion, average 5 years
Risk of adverse outcomes in patients with FH
Major Adverse Cardiovascular Events (composite of fatal and non-fatal coronary heart disease, fatal and non-fatal stroke, peripheral vascular disease, and revascularization); Cardiovascular mortality; All-cause mortality.
Measured: Through study completion, an average 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Feb 2020
- Study start22 Mar 2015
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Familial HypercholesterolemiaStudies of the same condition, open and under way.
- More trials run by Imperial College LondonThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 75,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Imperial College London
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Kausik Ray, MD MPhil, Principal investigator, Imperial College London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04272697
- Sponsor's protocol ID
- 19IC5437
- Acronym
- FHSC
- Status last verified
- Mar 2026
- First submitted
- 11 Feb 2020
- Last updated
- 4 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widen E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. No abstract available.
PubMed 26408930EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Z, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widen E, Yamashita S, Catapano AL, Ray KK. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.
PubMed 27939304EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M, Bruckert E, Chlebus K, Corral P, Descamps O, Durst R, Ezhov M, Fras Z, Genest J, Groselj U, Harada-Shiba M, Kayikcioglu M, Lalic K, Lam CSP, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Z, Sadoh WE, Sahebkar A, Shehab A, Shek AB, Stoll M, Su TC, Subramaniam T, Susekov AV, Symeonides P, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjaerg-Hansen A, Vazquez-Cardenas A, Viigimaa M, Vohnout B, Widen E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgozoglu L, Car J, Catapano AL, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis. 2018 Oct;277:234-255. doi: 10.1016/j.atherosclerosis.2018.08.051.
PubMed 30270054European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024 Jan 6;403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12.
PubMed 38101429
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
- ClinicalTrials.gov ID
- NCT04272697
- Acronym / sponsor ID
- FHSC / 19IC5437
- Conditions
- Familial Hypercholesterolemia
- Keywords
- Familial hypercholesterolaemia, Primary dyslipidaemia, Cardiovascular disease prevention, LDL cholesterol, Genetic lipids disorders
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 75,000 participants (estimated)
- Lead sponsor
- Imperial College LondonUniversity, hospital or other
- Study start
- 22 Mar 2015 (actual)
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 17 Feb 2020 (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.
Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated.
Efforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites/countries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far.
The EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national/regional/local registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database.
The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.
Detailed description
Familial hypercholesterolaemia (FH) is a common genetic disorder affecting low-density lipoprotein cholesterol (LDL-C) metabolism, resulting in reduced catabolism of LDL particles and marked elevations in circulating LDL-C. If untreated, lifelong exposure to elevated LDL-C results in the development of atherosclerotic lesions early in life and a substantially increased risk of premature cardiovascular disease as compared to the general population. Early detection and effective treatment of FH can result in a significant improvement in clinical outcomes. Despite these compelling data, FH remains largely underdiagnosed with less than 5% of individuals with FH being identified in most regions around the world. Compounding its burden is the observation that FH is undertreated even among those with an established diagnosis.
The European Atherosclerosis Society (EAS) FH Studies Collaboration (FHSC) is a global initiative that was launched in 2015 to bring together a large-scale consortium of investigators and stakeholders involved in the care of people living with FH. The EAS FHSC ultimately seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The Coordinating Centre is based at the Imperial Centre for Cardiovascular Disease Prevention (ICCP), Imperial College London (ICL), UK. Currently investigators from over 65 countries are involved in the EAS FHSC network.
Specifically, the EAS FHSC aims to:
- Establish a worldwide, standardised registry of patients with FH by bringing together regional/national/international cohorts and registries with access to FH patients. This will allow the collaboration to maximise the exploitation of the data to accurately and reliably investigate (i) the burden of both homozygous FH (HoFH) and HeFH, (ii) how FH is detected and managed, (iii) the clinical consequences of current practice on delivery of care and outcomes, (iv) the factors that influence optimal management and LDL-C target attainment in FH.
- Disseminate the information gained from the registry to an international audience including physicians, other healthcare professionals, policy-makers and patients' organizations, to sensitise them to the contemporary burden of FH, encourage open discussion on FH management, promoting a uniform evidence-based standard-of-care, and encourage them to contribute actively to research.
- Consolidate a network of investigators interested in FH through which collaborative research and networking on FH can be conducted on a large-scale.
The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data were sourced from multiple resources of active multiple cohorts, registries, databases and collections with access to information on individuals with a clinical and/or genetic diagnosis of homozygous or heterozygous FH across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry by the respective data suppliers where data is pooled, harmonised and integrated into a single global database. The FHSC registry has been conceived with a long term strategy in mind, in order to increase the follow-up of patients, including new individuals diagnosed with FH over time, bringing new cohorts into the registry, and take into account temporal trends and changes in clinical practice.
Quality assurance was addressed by providing the data suppliers with the FHSC protocol, which sets out the criteria of minimal standards for data collection prior to submission to the FHSC Global Registry, ensuring data completeness and accuracy. The incoming data was collated, standardised in accordance with a data dictionary, cleaned and validated by coordinating data queries with the respective data suppliers, and integrated within a secure data warehouse.
The FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. Standard validated statistical procedures and models for observational studies and weighted meta-analyses are being performed on the secondary data to address multiple scientific inquiries.
Further details, including FHSC protocol, are published open-access at:
FHSC Investigators. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Heterozygous Familial Hypercholesterolaemia | – | –Adults and children with Heterozygous Familial Hypercholesterolaemia. |
| Homozygous Familial Hypercholesterolaemia | – | –Adults and children with Homozygous Familial Hypercholesterolaemia |
| Unaffected (non-FH) relatives of FH individuals | – | –Adults and children with unaffected (non-FH) relatives of FH individuals |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients clinically and/or genetically diagnosed with familial hypercholesterolaemia (FH). Non-affected (non-FH) relatives of FH patients as healthy controls.
Key inclusion criteria (3 listed)
- Clinical and/or genetic diagnosis of heterozygous or homozygous familial hypercholesterolaemia (FH)
- Relatives of index cases without a diagnosis of FH where screening (cascade or other) is carried out.
- The data have been de-identified prior to transferring to the EAS FHSC Global Registry.
Key exclusion criteria (2 listed)
- Secondary causes of dyslipidaemia (e.g. untreated hypothyroidism, cholestasis, nephrotic syndrome).
- Where data collection does not conform to the local or country wide standards for anonymised data.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Diagnosis of Familial Hypercholesterolaemia
Time frame: Baseline
Type of FH (Heterozygous FH, Homozygous FH). What clinical and/or genetic diagnostic criteria was used to diagnose FH. In the case of clinical diagnosis, what criteria system was used (Dutch Lipid Clinics Network, MedPed, Simon-Broome, Japanese [JAS] guidelines criteria, Canadian FH criteria, or other to be specified), what is the likelihood of the diagnosis (possible, probable, definite) and the diagnostic score, and what criteria within the clinical diagnostic system were met (family history of cardiovascular disease [CVD], personal history of premature CVD, physical examination [xanthomas, arcus corneallis], LDL-Cholesterol levels). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified). Age at diagnosis of FH.
Change in Lipid levels from diagnosis of FH/baseline to follow up
Time frame: Baseline and follow-up through study completion, average 5 years
Total cholesterol, LDL-Cholesterol, HDL-Cholesterol, Non-HDL-Cholesterol, Triglycerides, Apolipoprotein A, Apolipoprotien B, Lipoprotein(a)
Characteristics, vascular risk factors and cardiovascular comorbidity associated to FH patients
Time frame: Baseline
General and demographic characteristics, including gender, age, ethnicity, and world geographical region. Cardiovascular Risk Factors, including hypertension, diabetes (and type I or II), smoking, body mass index, systolic and diastolic blood pressure, and family history of cardiovascular diseases (CVD). Cardiovascular Diseases, including coronary artery disease, cerebrovascular disease and peripheral artery disease, and the age at diagnosis (i.e. premature or non-premature CVD).
Change in Management of FH patients over time
Time frame: Baseline and follow-up through study completion, average 5 years
Whether patient is on lipid-lowering medication or not. Among those on lipid-lowering medication, what drug, including statins, ezetimibe, PCSK9 inhibitors, other lipid-lowering drugs. In each case, type of drug within each class and dose. Proportion of patients who met the guideline-recommended target attainment (LDL-C and non-HDL-C targets, based on the baseline cardiovascular risk) and associated factors.
Risk of adverse outcomes in patients with FH
Time frame: Through study completion, an average 5 years
Major Adverse Cardiovascular Events (composite of fatal and non-fatal coronary heart disease, fatal and non-fatal stroke, peripheral vascular disease, and revascularization); Cardiovascular mortality; All-cause mortality.
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 4 Mar 2026.
- Background: PubMed 26408930Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widen E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. No abstract available.
- Background: PubMed 27939304EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Z, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widen E, Yamashita S, Catapano AL, Ray KK. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016 Dec;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001. Epub 2016 Dec 7.
- Background: PubMed 30270054EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M, Bruckert E, Chlebus K, Corral P, Descamps O, Durst R, Ezhov M, Fras Z, Genest J, Groselj U, Harada-Shiba M, Kayikcioglu M, Lalic K, Lam CSP, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Maher V, Majano N, Marais AD, Marz W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Z, Sadoh WE, Sahebkar A, Shehab A, Shek AB, Stoll M, Su TC, Subramaniam T, Susekov AV, Symeonides P, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjaerg-Hansen A, Vazquez-Cardenas A, Viigimaa M, Vohnout B, Widen E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgozoglu L, Car J, Catapano AL, Ray KK; EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) Investigators. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Atherosclerosis. 2018 Oct;277:234-255. doi: 10.1016/j.atherosclerosis.2018.08.051.
- Derived from this study: PubMed 38101429European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. 2024 Jan 6;403(10421):55-66. doi: 10.1016/S0140-6736(23)01842-1. Epub 2023 Dec 12.
- 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.
Kausik Ray, MD MPhil principal investigator
Imperial College London
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolemia, run by Imperial College London at 1 site in United Kingdom.
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 3 inclusion and 2 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 4 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. 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 EAS FHSC Coordinating Centre (+44 (0)20 7594 2771, coordinator@eas-fhsc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnosis of Familial Hypercholesterolaemia (time frame: Baseline). The study lists 5 primary outcomes in all. 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 NCT04272697, which also lists 4 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 4 Mar 2026.