TY - JOUR

T1 - Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes

T2 - Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

AU - Vallejo-Vaz, Antonio J

AU - Akram, Asif

AU - Kondapally Seshasai, Sreenivasa Rao

AU - Cole, Della

AU - Watts, Gerald F

AU - Hovingh, G Kees

AU - Kastelein, John J P

AU - Mata, Pedro

AU - Raal, Frederick J

AU - Santos, Raul D

AU - Soran, Handrean

AU - Freiberger, Tomas

AU - Abifadel, Marianne

AU - Aguilar-Salinas, Carlos A

AU - Alnouri, Fahad

AU - Alonso, Rodrigo

AU - Al-Rasadi, Khalid

AU - Banach, Maciej

AU - Bogsrud, Martin P

AU - Bourbon, Mafalda

AU - Bruckert, Eric

AU - Car, Josip

AU - Ceska, Richard

AU - Corral, Pablo

AU - Descamps, Olivier

AU - Dieplinger, Hans

AU - Do, Can T

AU - Durst, Ronen

AU - Ezhov, Marat V

AU - Fras, Zlatko

AU - Gaita, Dan

AU - Gaspar, Isabel M

AU - Genest, Jaques

AU - Harada-Shiba, Mariko

AU - Jiang, Lixin

AU - Kayikcioglu, Meral

AU - Lam, Carolyn S P

AU - Latkovskis, Gustavs

AU - Laufs, Ulrich

AU - Liberopoulos, Evangelos

AU - Lin, Jie

AU - Lin, Nan

AU - Maher, Vincent

AU - Majano, Nelson

AU - Marais, A David

AU - März, Winfried

AU - Mirrakhimov, Erkin

AU - Miserez, André R

AU - Mitchenko, Olena

AU - Nordestgaard, Børge G

AU - EAS Familial Hypercholesterolaemia Studies Collaboration

N1 - Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

PY - 2016/12

Y1 - 2016/12

N2 - BACKGROUND: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide.METHODS: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects.CONCLUSIONS: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.

AB - BACKGROUND: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide.METHODS: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects.CONCLUSIONS: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients.

U2 - 10.1016/j.atherosclerosissup.2016.10.001

DO - 10.1016/j.atherosclerosissup.2016.10.001

M3 - Journal article

C2 - 27939304

VL - 22

SP - 1

EP - 32

JO - Journal of atherosclerosis research

JF - Journal of atherosclerosis research

SN - 1567-5688

ER -