EAS Familial Hypercholesterolaemia Studies Collaboration
Recruiting · NCT04272697 · Observational (researchers observe without assigning treatment) · Lead sponsor: Imperial College London
View the official record on ClinicalTrials.gov →What this trial is about
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.
Who can take part
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 is running
1 location listed.
- School of Public Health, Imperial College London - London, United Kingdom