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EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

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ClinicalTrials.gov Identifier: NCT04272697
Recruitment Status : Recruiting
First Posted : February 17, 2020
Last Update Posted : February 17, 2020
Sponsor:
Information provided by (Responsible Party):
Imperial College London

Brief 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 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.


Condition or disease
Familial Hypercholesterolemia

Show Show detailed description

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 75000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
Actual Study Start Date : March 22, 2015
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine


Group/Cohort
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



Primary Outcome Measures :
  1. 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.


  2. 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)

  3. 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).


  4. 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.


  5. 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.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients clinically and/or genetically diagnosed with familial hypercholesterolaemia (FH).

Non-affected (non-FH) relatives of FH patients as healthy controls.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04272697


Contacts
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Contact: EAS FHSC Coordinating Centre +44 (0)20 7594 2771 coordinator@eas-fhsc.org

Locations
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United Kingdom
School of Public Health, Imperial College London Recruiting
London, United Kingdom, W6 8RP
Contact: EAS FHSC Coordinating Centre    +44 (0)20 7594 2771    coordinator@eas-fhsc.org   
Sponsors and Collaborators
Imperial College London
Investigators
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Principal Investigator: Kausik Ray, MD MPhil Imperial College London
  Study Documents (Full-Text)

Documents provided by Imperial College London:

Additional Information:
Publications:
EAS 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, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Ž, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widén 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.
EAS 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, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi HM, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Ž, 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, Tybjærg-Hansen A, Vázquez-Cárdenas A, Viigimaa M, Vohnout B, Widén E, Yamashita S, Banach M, Gaita D, Jiang L, Nilsson L, Santos LE, Schunkert H, Tokgözoğlu 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.

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Responsible Party: Imperial College London
ClinicalTrials.gov Identifier: NCT04272697    
Other Study ID Numbers: 19IC5437
First Posted: February 17, 2020    Key Record Dates
Last Update Posted: February 17, 2020
Last Verified: February 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Imperial College London:
Familial hypercholesterolaemia
Primary dyslipidaemia
Cardiovascular disease prevention
LDL cholesterol
Genetic lipids disorders
Additional relevant MeSH terms:
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Hyperlipoproteinemia Type II
Hypercholesterolemia
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias