دورية أكاديمية
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
| العنوان: | European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry. |
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| المؤلفون: | Bloomfield M; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Lautarescu A; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK alexandra.lautarescu@kcl.ac.uk.; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK., Heraty S; Department of Psychological Sciences, Birkbeck University of London, London, UK., Douglas S; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Violland P; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Plas R; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Ghosh A; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Van den Bosch K; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK., Eaton E; Autism Research Centre, Cambridge University, Cambridge, UK., Absoud M; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK.; Department of Women and Children's Health, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, UK., Battini R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Blázquez Hinojosa A; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain., Bolshakova N; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland., Bölte S; Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.; Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm, Sweden.; Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Western Australia, Australia., Bonanni P; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy., Borg J; Centre for Psychiatry Research and Centre for Cognitive and Computational Neuropsychiatry (CCNP), Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.; Department of Neuropsychiatry, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at The University of Gothenburg, Gothenburg, Sweden., Calderoni S; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Calvo Escalona R; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Castelo-Branco M; Institute of Physiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Castro-Fornieles J; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain., Caro P; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Cliquet F; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Danieli A; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy., Delorme R; Child and Adolescent Psychiatry Department, Robert Debre Hospital, APHP, Paris, France., Elia M; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy., Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Leblond CS; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Madeira N; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.; Psychiatry Department, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal.; Institute of Psychological Medicine, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., McAlonan G; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.; Behavioural and Developmental Clinical Academic Group, South London and Maudsley NHS Foundation Trust, London, UK., Milone R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., Molloy CJ; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland., Mouga S; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Montiel V; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain., Pina Rodrigues A; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal., Schaaf CP; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Deu, Barcelona, Spain., Tammimies K; Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Tye C; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Vigevano F; Neurological Sciences and Rehabilitation Medicine Scientific Area, Bambino Gesù Children's Hospital, Rome, Italy.; Paediatric Neurorehabilitation Department, IRCCS San Raffaele, Rome, UK., Oliveira G; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Child Developmental Center and Research and Clinical Training Center, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal., Mazzone B; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy., O'Neill C; Cure Sanfilippo Foundation, Columbia, South Carolina, USA., Pender J; SYNGAP Research Fund, San Diego, California, USA., Romero V; Dup15q e.V, Hessen, Germany., Tillmann J; Roche Pharma Research and Early Development, Roche Innovation Center, Basel, Switzerland., Oakley B; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK., Murphy DGM; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.; South London and Maudsley NHS Foundation Trust, London, UK.; Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Gallagher L; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.; SickKids Research Institute, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Ontario, Canada.; Child and Youth Division Centre for Addiction and Mental Health, CAMH, Toronto, Ontario, Canada.; Department of Psychiatry, Temerty Faculty of Medicine, Univerisity of Toronto, Toronto, Ontario, Canada., Bourgeron T; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France., Chatham C; F Hoffmann-La Roche Ltd, Basel, Switzerland., Charman T; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK. |
| المصدر: | BMJ open [BMJ Open] 2024 Jun 04; Vol. 14 (6), pp. e080746. Date of Electronic Publication: 2024 Jun 04. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BMJ Publishing Group Ltd, 2011- |
| مواضيع طبية MeSH: | Autistic Disorder*/genetics , Genomics* , Registries* , Whole Genome Sequencing*, Child ; Humans ; Male ; Cohort Studies ; Europe ; Multicenter Studies as Topic ; Research Design |
| مستخلص: | 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). Competing Interests: Competing interests: In the past 3 years, TC has served as a paid consultant to F. Hoffmann-La Roche and Servier and has received royalties from Sage Publications and Guilford Publications. DGMM has received funding for a PhD studentship from Compass, and for consulting from Jaguar Therapeutics and Hoffman Le Roche. GM receives funding for an investigator-initiated study from Compass Pathways; no financial or other conflict of interest with the present study. SB discloses that he has in the last 3 years acted as an author, consultant, or lecturer for Medice, Roche and Linus Biotechnology. SB receives royalties for textbooks and diagnostic tools from Hogrefe, UTB, Ernst Reinhardt, Kohlhammer, and Liber, and is a partner at NeuroSupportSolutions International AB. CC is a full-time employee of Genentech and owns stocks or RSUs in Roche Holdings. MA is the UK chief investigator for a trial sponsored by Roche (a phase II, randomised, double-blind, placebo-controlled, parallel group study to evaluate the safety, efficacy and pharmacodynamics of 52 weeks of treatment with basmasanil in participants aged 2–14 years old with dup15q syndrome followed by a 2-year optional open-label extension). LB served on an advisory board to Kingdom therapeutics in 2022. (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.) |
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| فهرسة مساهمة: | Keywords: genetics; mental health; registries |
| تواريخ الأحداث: | Date Created: 20240604 Date Completed: 20240604 Latest Revision: 20240717 |
| رمز التحديث: | 20240718 |
| مُعرف محوري في PubMed: | PMC11163653 |
| DOI: | 10.1136/bmjopen-2023-080746 |
| PMID: | 38834317 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2044-6055 |
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| DOI: | 10.1136/bmjopen-2023-080746 |