Global collaboration to improve diagnosis and treatment of familial hypercholesterolemia
Official title: European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
Run by Imperial College London · NCT04272697 · Data updated 2026-11-12
This study is trying to find better ways to diagnose and treat familial hypercholesterolemia, a genetic condition that causes high cholesterol and increases heart disease risk, by working with experts from around the world.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 75000 (estimated) |
| Sponsor | Imperial College London Academic / other |
| Locations | 1 site (London) |
| Status | Recruiting |
| Started | March 22, 2015 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | March 4, 2026 |
| Trial ID | NCT04272697 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with a clinical or genetic diagnosis of heterozygous or homozygous familial hypercholesterolemia, as well as their relatives undergoing screening.
✕Probably not a fit
Patients with secondary causes of dyslipidemia or those whose data collection does not meet local anonymization standards may not benefit from this initiative.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This initiative aims to address the global burden of familial hypercholesterolemia (FH), a genetic disorder that leads to high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of cardiovascular disease. The EAS FH Studies Collaboration (FHSC) brings together a consortium of investigators and stakeholders from over 65 countries to promote early diagnosis and effective treatment of FH. By harmonizing data from various cohorts and enhancing awareness, the initiative seeks to improve clinical outcomes for individuals affected by this condition. The project is coordinated by the Imperial Centre for Cardiovascular Disease Prevention at Imperial College London.
Why it matters
Potential benefit: If successful, this initiative could significantly enhance early diagnosis and treatment of familial hypercholesterolemia, reducing the risk of cardiovascular disease in affected individuals.
How similar studies have gone: Other studies have shown success in improving outcomes for familial hypercholesterolemia through collaborative efforts, making this approach both relevant and promising.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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. Exclusion Criteria: * 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.
Where it's running
-
School of Public Health, Imperial College London
London, United Kingdom Recruiting
Study contacts
- Principal investigator: Kausik Ray, MD MPhil — Imperial College London
- Study coordinator: EAS FHSC Coordinating Centre
- Email: coordinator@eas-fhsc.org
- Phone: +44 (0)20 7594 2771
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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ORIGIN-FH: Newborn screening to detect familial high cholesterol
This project will test a genetic cheek swab of parents plus blood screening of newborns to find familial high cholesterol in babies born to parents with familial hypercholesterolemia.
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Registry for hereditary cardiovascular diseases in Brazil
This study is trying to create a registry of Brazilian patients with hereditary heart diseases to see how common certain genetic changes are in people with these conditions.
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Exploring YOLT-101 for treating Familial Hypercholesterolemia
This study is testing a new treatment called YOLT-101 to see if it can safely lower cholesterol levels in people with familial hypercholesterolemia.
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Atlantic program to optimize cholesterol-lowering care
This program will try coordinated outreach with primary care providers to lower LDL-C in people with familial hypercholesterolemia or LDL-C ≥160 mg/dL.
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Observational study on genetic lipid disorders in Italy
This study looks at families with high cholesterol to see how genetics affect their condition and treatment, using information gathered during regular doctor visits.
-
Improving detection of familial hypercholesterolemia through lab comments on cholesterol levels
This study is testing if adding helpful comments about high cholesterol levels in lab reports can lead to more people being referred for familial hypercholesterolemia diagnosis and treatment in Southern Denmark.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.