European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Madeleine Bloomfield; Alexandra Lautarescu; Síofra Heraty; Sarah Douglas; Pierre Violland; Roderik Plas; Anjuli Ghosh; Katrien Van Den Bosch; Eliza Eaton; Michael Absoud; Roberta Battini; Ana Blázquez Hinojosa; Nadia Bolshakova; Sven Bölte; Paolo Bonanni; Jacqueline Borg; Sara Calderoni; Rosa Calvo Escalona; Miguel Castelo-Branco; Josefina Castro-Fornieles; Pilar Caro; Freddy Cliquet; Alberto Danieli; Richard Delorme; Maurizio Elia; Maja Hempel; Claire S. Leblond; Nuno Madeira; Grainne McAlonan; Roberta Milone; Ciara J. Molloy; Susana Mouga; Virginia Montiel; Ana Pina Rodrigues; Christian P. Schaaf; Mercedes Serrano; Kristiina Tammimies; Charlotte Tye; Federico Vigevano; Guiomar Oliveira; Beatrice Mazzone; Cara O'Neill; Julie Pender; Verena Romero; Julian Tillmann; Bethany Oakley; Declan G.M. Murphy; Louise Gallagher; Thomas Bourgeron; Christopher Chatham; Tony Charman

doi:10.1136/bmjopen-2023-080746

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Madeleine Bloomfield, Alexandra Lautarescu^*, Síofra Heraty, Sarah Douglas, Pierre Violland, Roderik Plas, Anjuli Ghosh, Katrien Van Den Bosch, Eliza Eaton, Michael Absoud, Roberta Battini, Ana Blázquez Hinojosa, Nadia Bolshakova, Sven Bölte, Paolo Bonanni, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Miguel Castelo-Branco, Josefina Castro-FornielesPilar Caro, Freddy Cliquet, Alberto Danieli, Richard Delorme, Maurizio Elia, Maja Hempel, Claire S. Leblond, Nuno Madeira, Grainne McAlonan, Roberta Milone, Ciara J. Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Christian P. Schaaf, Mercedes Serrano, Kristiina Tammimies, Charlotte Tye, Federico Vigevano, Guiomar Oliveira, Beatrice Mazzone, Cara O'Neill, Julie Pender, Verena Romero, Julian Tillmann, Bethany Oakley, Declan G.M. Murphy, Louise Gallagher, Thomas Bourgeron, Christopher Chatham, Tony Charman

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. 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).

Original language	English
Article number	e080746
Journal	BMJ Open
Volume	14
Issue number	6
DOIs	https://doi.org/10.1136/bmjopen-2023-080746
Publication status	Published - 4 Jun 2024

Keywords

genetics
mental health
registries

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1136/bmjopen-2023-080746

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Bloomfield, M., Lautarescu, A., Heraty, S., Douglas, S., Violland, P., Plas, R., Ghosh, A., Van Den Bosch, K., Eaton, E., Absoud, M., Battini, R., Blázquez Hinojosa, A., Bolshakova, N., Bölte, S., Bonanni, P., Borg, J., Calderoni, S., Calvo Escalona, R., Castelo-Branco, M., ... Charman, T. (2024). European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry. BMJ Open, 14(6), Article e080746. https://doi.org/10.1136/bmjopen-2023-080746

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abstract = "Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. 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).",

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author = "Madeleine Bloomfield and Alexandra Lautarescu and S{\'i}ofra Heraty and Sarah Douglas and Pierre Violland and Roderik Plas and Anjuli Ghosh and {Van Den Bosch}, Katrien and Eliza Eaton and Michael Absoud and Roberta Battini and {Bl{\'a}zquez Hinojosa}, Ana and Nadia Bolshakova and Sven B{\"o}lte and Paolo Bonanni and Jacqueline Borg and Sara Calderoni and {Calvo Escalona}, Rosa and Miguel Castelo-Branco and Josefina Castro-Fornieles and Pilar Caro and Freddy Cliquet and Alberto Danieli and Richard Delorme and Maurizio Elia and Maja Hempel and Leblond, {Claire S.} and Nuno Madeira and Grainne McAlonan and Roberta Milone and Molloy, {Ciara J.} and Susana Mouga and Virginia Montiel and {Pina Rodrigues}, Ana and Schaaf, {Christian P.} and Mercedes Serrano and Kristiina Tammimies and Charlotte Tye and Federico Vigevano and Guiomar Oliveira and Beatrice Mazzone and Cara O'Neill and Julie Pender and Verena Romero and Julian Tillmann and Bethany Oakley and Murphy, {Declan G.M.} and Louise Gallagher and Thomas Bourgeron and Christopher Chatham and Tony Charman",

note = "Publisher Copyright: {\textcopyright} Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.",

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month = jun,

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Bloomfield, M , Lautarescu, A, Heraty, S, Douglas, S, Violland, P, Plas, R, Ghosh, A, Van Den Bosch, K, Eaton, E, Absoud, M, Battini, R, Blázquez Hinojosa, A, Bolshakova, N, Bölte, S, Bonanni, P, Borg, J, Calderoni, S, Calvo Escalona, R, Castelo-Branco, M, Castro-Fornieles, J, Caro, P, Cliquet, F, Danieli, A, Delorme, R, Elia, M, Hempel, M, Leblond, CS, Madeira, N, McAlonan, G, Milone, R, Molloy, CJ, Mouga, S, Montiel, V, Pina Rodrigues, A, Schaaf, CP, Serrano, M, Tammimies, K, Tye, C, Vigevano, F, Oliveira, G, Mazzone, B, O'Neill, C, Pender, J, Romero, V, Tillmann, J , Oakley, B , Murphy, DGM, Gallagher, L, Bourgeron, T, Chatham, C & Charman, T 2024, 'European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry', BMJ Open, vol. 14, no. 6, e080746. https://doi.org/10.1136/bmjopen-2023-080746

TY - JOUR

T1 - European Autism GEnomics Registry (EAGER)

T2 - Protocol for a multicentre cohort study and registry

AU - Bloomfield, Madeleine

AU - Lautarescu, Alexandra

AU - Heraty, Síofra

AU - Douglas, Sarah

AU - Violland, Pierre

AU - Plas, Roderik

AU - Ghosh, Anjuli

AU - Van Den Bosch, Katrien

AU - Eaton, Eliza

AU - Absoud, Michael

AU - Battini, Roberta

AU - Blázquez Hinojosa, Ana

AU - Bolshakova, Nadia

AU - Bölte, Sven

AU - Bonanni, Paolo

AU - Borg, Jacqueline

AU - Calderoni, Sara

AU - Calvo Escalona, Rosa

AU - Castelo-Branco, Miguel

AU - Castro-Fornieles, Josefina

AU - Caro, Pilar

AU - Cliquet, Freddy

AU - Danieli, Alberto

AU - Delorme, Richard

AU - Elia, Maurizio

AU - Hempel, Maja

AU - Leblond, Claire S.

AU - Madeira, Nuno

AU - McAlonan, Grainne

AU - Milone, Roberta

AU - Molloy, Ciara J.

AU - Mouga, Susana

AU - Montiel, Virginia

AU - Pina Rodrigues, Ana

AU - Schaaf, Christian P.

AU - Serrano, Mercedes

AU - Tammimies, Kristiina

AU - Tye, Charlotte

AU - Vigevano, Federico

AU - Oliveira, Guiomar

AU - Mazzone, Beatrice

AU - O'Neill, Cara

AU - Pender, Julie

AU - Romero, Verena

AU - Tillmann, Julian

AU - Oakley, Bethany

AU - Murphy, Declan G.M.

AU - Gallagher, Louise

AU - Bourgeron, Thomas

AU - Chatham, Christopher

AU - Charman, Tony

PY - 2024/6/4

Y1 - 2024/6/4

N2 - Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. 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).

AB - Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. 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).

KW - genetics

KW - mental health

KW - registries

UR - http://www.scopus.com/inward/record.url?scp=85195251937&partnerID=8YFLogxK

U2 - 10.1136/bmjopen-2023-080746

DO - 10.1136/bmjopen-2023-080746

M3 - Article

C2 - 38834317

AN - SCOPUS:85195251937

SN - 2044-6055

VL - 14

JO - BMJ Open

JF - BMJ Open

IS - 6

M1 - e080746

ER -

European Autism GEnomics Registry (EAGER): Protocol for a multicentre cohort study and registry

Abstract

Keywords

UN SDGs

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