Global collaboration to improve diagnosis and treatment of familial hypercholesterolemia
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
Imperial College London · NCT04272697
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 |
|---|---|
| Enrollment | 75000 (estimated) |
| Sex | All |
| Sponsor | Imperial College London (other) |
| Locations | 1 site (London) |
| Trial ID | NCT04272697 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: Other studies have shown success in improving outcomes for familial hypercholesterolemia through collaborative efforts, making this approach both relevant and promising.
Eligibility criteria
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 this trial is running
London
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Familial Hypercholesterolemia, Familial hypercholesterolaemia, Primary dyslipidaemia, Cardiovascular disease prevention, LDL cholesterol, Genetic lipids disorders