EAS 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. Althoug
| Condition(s) | Familial Hypercholesterolemia |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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. 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 availa |
| Who can participate | 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. |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | Imperial College London |
| Locations | London, United Kingdom |
| Start date | 2015-03-22 |
| NCT ID | NCT04272697 |
| Official listing | https://clinicaltrials.gov/study/NCT04272697 |