BMJ Open (Jun 2024)
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
- Louise Gallagher,
- Michael Absoud,
- Miguel Castelo-Branco,
- Tony Charman,
- Maja Hempel,
- Richard Delorme,
- Guiomar Oliveira,
- Roberta Battini,
- Sven Bölte,
- Claire S Leblond,
- Thomas Bourgeron,
- Alexandra Lautarescu,
- Mercedes Serrano,
- Federico Vigevano,
- Christian P Schaaf,
- Bethany Oakley,
- Julian Tillmann,
- Pierre Violland,
- Declan G M Murphy,
- Sarah Douglas,
- Paolo Bonanni,
- Grainne McAlonan,
- Roberta Milone,
- Josefina Castro-Fornieles,
- Madeleine Bloomfield,
- Síofra Heraty,
- Roderik Plas,
- Anjuli Ghosh,
- Katrien Van den Bosch,
- Eliza Eaton,
- Ana Blázquez Hinojosa,
- Nadia Bolshakova,
- Jacqueline Borg,
- Sara Calderoni,
- Rosa Calvo Escalona,
- Pilar Caro,
- Freddy Cliquet,
- Alberto Danieli,
- Maurizio Elia,
- Nuno Madeira,
- Ciara J Molloy,
- Susana Mouga,
- Virginia Montiel,
- Ana Pina Rodrigues,
- Kristiina Tammimies,
- Charlotte Tye,
- Beatrice Mazzone,
- Cara O’Neill,
- Julie Pender,
- Verena Romero,
- Christopher Chatham
Affiliations
- Louise Gallagher
- 43 SickKids Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada
- Michael Absoud
- 6 Department of Children`s Neurosciences, Evelina London Children`s Hospital, Guy`s and St Thomas` Hospitals NHS Trust, London, UK
- Miguel Castelo-Branco
- 22 Institute of Physiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
- Tony Charman
- 1 Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King`s College London, London, UK
- Maja Hempel
- 24 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
- Richard Delorme
- 26 Child and Adolescent Psychiatry Department, Robert Debre Hospital, APHP, Paris, France
- Guiomar Oliveira
- 35 University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
- Roberta Battini
- 8 Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy
- Sven Bölte
- 12 Center of Neurodevelopmental Disorders (KIND), Department of Women’s and Children’s Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden
- Claire S Leblond
- 25 Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France
- Thomas Bourgeron
- 25 Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France
- Alexandra Lautarescu
- 2 Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King`s College London, London, UK
- Mercedes Serrano
- 31 Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain
- Federico Vigevano
- 33 Neurological Sciences and Rehabilitation Medicine Scientific Area, Bambino Gesù Children`s Hospital, Rome, Italy
- Christian P Schaaf
- 24 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
- Bethany Oakley
- 2 Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King`s College London, London, UK
- Julian Tillmann
- 40 Roche Pharma Research and Early Development, Roche Innovation Center, Basel, Switzerland
- Pierre Violland
- 4 AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK
- Declan G M Murphy
- 2 Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King`s College London, London, UK
- Sarah Douglas
- 4 AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK
- Paolo Bonanni
- 15 Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy
- Grainne McAlonan
- 2 Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King`s College London, London, UK
- Roberta Milone
- 8 Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy
- Josefina Castro-Fornieles
- 10 Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain
- Madeleine Bloomfield
- 1 Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King`s College London, London, UK
- Síofra Heraty
- 3 Department of Psychological Sciences, Birkbeck University of London, London, UK
- Roderik Plas
- 4 AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK
- Anjuli Ghosh
- 4 AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK
- Katrien Van den Bosch
- 4 AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK
- Eliza Eaton
- 5 Autism Research Centre, Cambridge University, Cambridge, UK
- Ana Blázquez Hinojosa
- 10 Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain
- Nadia Bolshakova
- 11 Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland
- Jacqueline Borg
- 17 Department of Neuropsychiatry, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
- Sara Calderoni
- 8 Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy
- Rosa Calvo Escalona
- 10 Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain
- Pilar Caro
- 24 Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
- Freddy Cliquet
- 25 Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France
- Alberto Danieli
- 15 Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy
- Maurizio Elia
- 27 Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy
- Nuno Madeira
- 23 Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal
- Ciara J Molloy
- 11 Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland
- Susana Mouga
- 23 Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal
- Virginia Montiel
- 31 Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain
- Ana Pina Rodrigues
- 23 Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal
- Kristiina Tammimies
- 12 Center of Neurodevelopmental Disorders (KIND), Department of Women’s and Children’s Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden
- Charlotte Tye
- 1 Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King`s College London, London, UK
- Beatrice Mazzone
- 8 Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy
- Cara O’Neill
- 37 Cure Sanfilippo Foundation, Columbia, South Carolina, USA
- Julie Pender
- 38 SYNGAP Research Fund, San Diego, California, USA
- Verena Romero
- 39 Dup15q e.V, Hessen, Germany
- Christopher Chatham
- 46 F Hoffmann-La Roche Ltd, Basel, Switzerland
- DOI
- https://doi.org/10.1136/bmjopen-2023-080746
- Journal volume & issue
-
Vol. 14,
no. 6
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).
