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

被引：1

作者：

Bloomfield, Madeleine ^{[1
]}

Lautarescu, Alexandra ^{[1
,2
]}

Heraty, Siofra ^{[3
]}

Douglas, Sarah ^{[4
]}

Violland, Pierre ^{[4
]}

Plas, Roderik ^{[4
]}

Ghosh, Anjuli ^{[4
]}

van den Bosch, Katrien ^{[4
]}

Eaton, Eliza ^{[5
]}

Absoud, Michael ^{[6
,7
]}

Battini, Roberta ^{[8
,9
]}

Hinojosa, Ana Blazquez ^{[10
]}

Bolshakova, Nadia ^{[11
]}

Bolte, Sven ^{[12
,13
,14
]}

Bonanni, Paolo ^{[15
]}

Borg, Jacqueline ^{[16
,17
,18
,19
,20
]}

Calderoni, Sara ^{[8
,9
]}

Escalona, Rosa Calvo ^{[10
,19
,20
,21
]}

Castelo-Branco, Miguel ^{[24
,25
]}

Castro-Fornieles, Josefina ^{[10
,21
,22
,23
]}

Caro, Pilar ^{[26
]}

Cliquet, Freddy ^{[27
]}

Danieli, Alberto ^{[15
]}

Delorme, Richard ^{[28
]}

Elia, Maurizio ^{[29
]}

Hempel, Maja ^{[26
]}

Leblond, Claire S. ^{[27
]}

Madeira, Nuno ^{[25
,30
,31
]}

McAlonan, Grainne ^{[2
,32
]}

Milone, Roberta ^{[8
]}

Molloy, Ciara J. ^{[11
]}

Mouga, Susana ^{[25
]}

Montiel, Virginia ^{[33
]}

Rodrigues, Ana Pina ^{[23
]}

Schaaf, Christian P. ^{[26
]}

Serrano, Mercedes ^{[33
]}

Tammimies, Kristiina ^{[12
,34
]}

Tye, Charlotte ^{[1
]}

Vigevano, Federico ^{[35
,36
]}

Oliveira, Guiomar ^{[25
,37
,38
,39
]}

Mazzone, Beatrice ^{[8
]}

O'Neill, Cara ^{[40
]}

Pender, Julie ^{[41
]}

Romero, Verena ^{[42
]}

Tillmann, Julian ^{[43
]}

Oakley, Bethany ^{[2
]}

Murphy, Declan G. M. ^{[2
,44
,45
]}

Gallagher, Louise ^{[11
,46
,47
,48
]}

Bourgeron, Thomas ^{[27
]}

Chatham, Christopher ^{[49
]}

机构：

[1] Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Psychol, London, England

[2] Kings Coll London, Dept Forens & Neurodev Sci, Inst Psychiat Psychol & Neurosci, London, England

[3] Birkbeck Univ London, Dept Psychol Sci, London, England

[4] Univ Cambridge, AIMS 2 TRIALS Areps, Cambridge, England

[5] Univ Cambridge, Autism Res Ctr, Cambridge, England

[6] Guys & St Thomas Hosp NHS Trust, Evelina London Childrens Hosp, Dept Childrens Neurosci, London, England

[7] Kings Coll London, Fac Life Sci & Med, Sch Life Course Sci, Dept Women & Childrens Hlth, London, England

[8] IRCCS Fdn Stella Maris, Dept Dev Neurosci, Pisa, Italy

[9] Univ Pisa, Dept Clin & Expt Med, Pisa, Italy

[10] Hosp Clin Univ Barcelona, Inst Neurosci, Dept Child & Adolescent Psychiat & Psychol, Barcelona, Spain

[11] Trinity Coll Dublin, Sch Med, Dept Psychiat, Dublin, Ireland

[12] Karolinska Inst, Ctr Neurodev Disorders KIND, Ctr Psychiat Res, Dept Womens & Childrens Hlth, Stockholm, Sweden

[13] Stockholm Hlth Care Serv, Child & Adolescent Psychiat, Stockholm, Sweden

[14] Curtin Univ, Curtin Sch Allied Hlth, Curtin Autism Res Grp, Perth, WA, Australia

[15] Sci Inst IRCCS E Medea Conegliano, Epilepsy Unit, Treviso, Italy

[16] Karolinska Inst, Ctr Psychiat Res, Dept Clin Neurosci, Stockholm, Sweden

[17] Karolinska Inst, Ctr Cognit & Computat Neuropsychiat CCNP, Dept Clin Neurosci, Stockholm, Sweden

[18] Stockholm Hlth Care Serv, Stockholm, Sweden

[19] Sahlgrens Univ Hosp, Dept Neuropsychiat, Reg Vastra Gotaland, Gothenburg, Sweden

[20] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Dept Psychiat & Neurochem, Gothenburg, Sweden

[21] Inst Invest Biomed August Pi I Sunyer, Barcelona, Spain

[22] Ctr Invest Biomed Red Salud Mental CIBERSAM, Madrid, Spain

[23] Univ Barcelona, Inst Neurosci, Dept Med, Barcelona, Spain

[24] Univ Coimbra, Inst Physiol, Fac Med, Coimbra, Portugal

[25] Univ Coimbra, Coimbra Inst Biomed Imaging & Translat Res CIBIT, Inst Nucl Sci Appl Hlth ICNAS, Coimbra, Portugal

[26] Univ Hosp Heidelberg, Inst Human Genet, Heidelberg, Germany

[27] Inst Pasteur, Genet Humaine & Fonct Cognit, UMR3571 CNRS, Paris, France

[28] Robert Debre Hosp, APHP, Child & Adolescent Psychiat Dept, Paris, France

[29] Oasi Res Inst IRCCS, Unit Neurol & Clin Neurophysiopathol, Troina, Italy

[30] Ctr Hosp & Univ Coimbra EPE, Psychiat Dept, Coimbra, Portugal

[31] Univ Coimbra, Inst Psychol Med, Fac Med, Coimbra, Portugal

[32] South London & Maudsley NHS Fdn Trust, Behav & Dev Clin Acad Grp, London, England

[33] Hosp St Joan De Deu, Inst Recerca St Joan de Deu, Pediat Neurol Dept, Barcelona, Spain

[34] Karolinska Univ Hosp, Astrid Lindgren Childrens Hosp, Stockholm, Sweden

[35] Bambino Gesu Pediat Hosp, Neurol Sci & Rehabil Med Sci Area, Rome, Italy

[36] IRCCS San Raffaele, Paediat Neurorehabil Dept, Rome, England

[37] Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal

[38] Ctr Hosp & Univ Coimbra CHUC, Pediat Hosp, Child Dev Ctr, Coimbra, Portugal

[39] Ctr Hosp & Univ Coimbra CHUC, Pediat Hosp, Res & Clin Training Ctr, Coimbra, Portugal

[40] Cure Sanfilippo Fdn, Columbia, SC USA

[41] SYNGAP Res Fund, San Diego, CA USA

[42] Dup15q eV, Hessen, Germany

[43] Roche Innovat Ctr, Roche Pharm Res & Early Dev, Basel, Switzerland

[44] South London & Maudsley NHS Fdn Trust, London, England

[45] Kings Coll London, Inst Translat Neurodev, Inst Psychiat Psychol & Neurosci, London, England

[46] Hosp Sick Children, SickKids Res Inst, Peter Gilgan Ctr Res & Learning, Toronto, ON, Canada

[47] Ctr Addict & Mental Hlth, Child & Youth Div, CAMH, Toronto, ON, Canada

[48] Univ Toronto, Temerty Fac Med, Dept Psychiat, Toronto, ON, Canada

[49] F Hoffmann La Roche Ltd, Basel, Switzerland

来源：

BMJ OPEN | 2024年 / 14卷 / 06期

基金：

英国科研创新办公室; 瑞典研究理事会;

关键词：

genetics; registries; mental health; DISORDERS; VALIDATION; QUESTIONNAIRE; BEHAVIORS; CHILDREN;

D O I：

10.1136/bmjopen-2023-080746

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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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