European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
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Bloomfield Madeleine, Lautarescu Alexandra, Heraty Síofra, Douglas Sarah, Violland Pierre, Plas Roderik, Ghosh Anjuli, Van den Bosch Katrien, Eaton Eliza, Absoud Michael, Battini Roberta, Blázquez Hinojosa Ana, Bolshakova Nadia, Bölte Sven, Bonanni Paolo, Borg Jacqueline, Calderoni Sara, Calvo Escalona Rosa, Castelo-Branco Miguel, Castro-Fornieles Josefina, Caro Pilar, Cliquet Freddy, Danieli Alberto, Delorme Richard, Elia Maurizio, Hempel Maja, Leblond Claire S, Madeira Nuno, McAlonan Grainne, Milone Roberta, Molloy Ciara J, Mouga Susana, Montiel Virginia, Pina Rodrigues Ana, Schaaf Christian P, Serrano Mercedes, Tammimies Kristiina, Tye Charlotte, Vigevano Federico, Oliveira Guiomar, Mazzone Beatrice, O'Neill Cara, Pender Julie, Romero Verena, Tillmann Julian, Oakley Bethany, Murphy Declan G M, Gallagher Louise, Bourgeron Thomas, Chatham Christopher, Charman Tony
Аннотация
METHODS AND ANALYSIS: EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms.
ETHICS AND DISSEMINATION: To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).