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

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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), e080746. https://doi.org/10.1136/bmjopen-2023-080746

Publication date: 1 Jun 2024 Added to AutiHub: 12 Sep 2026 Type: Article Article language: English
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Authors

Publication authors
51
Publication authors identified as autistic
1 / 51 (2.0%)
  1. Madeleine Bloomfield
  2. Alexandra Lautarescu
  3. Síofra Heraty
  4. Sarah Douglas *
  5. Pierre Violland
  6. Roderik Plas
  7. Anjuli Ghosh
  8. Katrien Van den Bosch
  9. Eliza Eaton
  10. Michael Absoud
  11. Roberta Battini
  12. Ana Blázquez Hinojosa
  13. Nadia Bolshakova
  14. Sven Bölte
  15. Paolo Bonanni
  16. Jacqueline Borg
  17. Sara Calderoni
  1. Rosa Calvo Escalona
  2. Miguel Castelo-Branco
  3. Josefina Castro-Fornieles
  4. Pilar Caro
  5. Freddy Cliquet
  6. Alberto Danieli
  7. Richard Delorme
  8. Maurizio Elia
  9. Maja Hempel
  10. Claire S Leblond
  11. Nuno Madeira
  12. Grainne McAlonan
  13. Roberta Milone
  14. Ciara J Molloy
  15. Susana Mouga
  16. Virginia Montiel
  17. Ana Pina Rodrigues
  1. Christian P Schaaf
  2. Mercedes Serrano
  3. Kristiina Tammimies
  4. Charlotte Tye
  5. Federico Vigevano
  6. Guiomar Oliveira
  7. Beatrice Mazzone
  8. Cara O’Neill
  9. Julie Pender
  10. Verena Romero
  11. Julian Tillmann
  12. Bethany Oakley
  13. Declan G M Murphy
  14. Louise Gallagher
  15. Thomas Bourgeron
  16. Christopher Chatham
  17. Tony Charman

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).

Bibliography cited by this reference

Cited references are imported from external metadata sources when they are available. The list may be partial.

Cited bibliography overview

These indicators describe the bibliography cited by this publication. An author name is counted each time it appears in one cited reference, so the same person can be counted more than once. Names not yet linked to an author already present in AutiHub are treated as unknown, not as non-autistic. Last computed: 12 Sep 2026 18:20.

Cited references
58
With a DOI
45
Without a DOI, from raw bibliography text
13
4 / 58 (6.9%) cited references include at least one author identified as autistic.
References with data to complete
13 / 58 (22.4%)
References with detected author names
45 / 58 (77.6%)
Without detected author names
13
Without a structured title
13
Without a stable identifier
13
References with raw author names still to review
12
References with external metadata lookup issues
0
These indicators apply to cited references displayed on this page, after technical duplicates have been merged. A reference without a DOI can still support author statistics when a title and author names are available.
Author names detected in the cited bibliography
453
From DOI or external metadata
453
From validated raw bibliography text
0
Raw names already validated
0
Raw names still to review
15
179 / 453 (39.5%) names are linked to an author already present in AutiHub. 274 / 453 (60.5%) names are not yet linked.
Names linked to a person identified as autistic
10 / 453 (2.2%)
Calculated across all author names detected in the cited bibliography. Among names linked to an author already present in AutiHub: 10 / 179 (5.6%). Distinct people identified as autistic: 8 / 377 (2.1%).
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