Evidence map›Paper›PMID 38834317›Full record

ArticleBMJ open2024

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 and 41 more

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In one paragraph

Article in BMJ open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

51 authors.

Madeleine BloomfieldDepartment of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Alexandra LautarescuDepartment of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK alexandra.lautarescu@kcl.ac.uk.ORCID 0000-0001-7680-8936
Síofra HeratyDepartment of Psychological Sciences, Birkbeck University of London, London, UK.
Sarah DouglasAIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
Pierre ViollandAIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.ORCID 0000-0003-2346-8039
Roderik PlasAIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
Anjuli GhoshAIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
Katrien Van den BoschAIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
Eliza EatonAutism Research Centre, Cambridge University, Cambridge, UK.
Michael AbsoudDepartment of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
Roberta BattiniDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
Ana Blázquez HinojosaDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
Nadia BolshakovaDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Sven BölteCenter of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.
Paolo BonanniEpilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy.
Jacqueline BorgCentre for Psychiatry Research and Centre for Cognitive and Computational Neuropsychiatry (CCNP), Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.
Sara CalderoniDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
Rosa Calvo EscalonaDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
Miguel Castelo-BrancoInstitute of Physiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.ORCID 0000-0003-4364-6373
Josefina Castro-FornielesDepartment of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
Pilar CaroInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Freddy CliquetGénétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France.
Alberto DanieliEpilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy.
Richard DelormeChild and Adolescent Psychiatry Department, Robert Debre Hospital, APHP, Paris, France.
Maurizio EliaUnit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy.
Maja HempelInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Claire S LeblondGénétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France.
Nuno MadeiraCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
Grainne McAlonanDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
Roberta MiloneDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
Ciara J MolloyDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Susana MougaCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
Virginia MontielPediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain.
Ana Pina RodriguesCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
Christian P SchaafInstitute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Mercedes SerranoPediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain.
Kristiina TammimiesCenter of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.
Charlotte TyeDepartment of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Federico VigevanoNeurological Sciences and Rehabilitation Medicine Scientific Area, Bambino Gesù Children's Hospital, Rome, Italy.
Guiomar OliveiraCoimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
Beatrice MazzoneDepartment of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
Cara O'NeillCure Sanfilippo Foundation, Columbia, South Carolina, USA.
Julie PenderSYNGAP Research Fund, San Diego, California, USA.
Verena RomeroDup15q e.V, Hessen, Germany.
Julian TillmannRoche Pharma Research and Early Development, Roche Innovation Center, Basel, Switzerland.
Bethany OakleyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
Declan G M MurphyDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
Louise GallagherDepartment of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
Thomas BourgeronGénétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France.
Christopher ChathamF Hoffmann-La Roche Ltd, Basel, Switzerland.
Tony CharmanDepartment of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.ORCID 0000-0003-1993-6549

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionAutism 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).

Indexed as

Autistic DisorderGenomicsRegistriesWhole Genome SequencingChildCohort StudiesEuropeHumansMaleMulticenter Studies as TopicResearch Designgeneticsmental healthregistries

Identifiers

PMID38834317
PMCPMC11163653

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.