European Autism GEnomics Registry (EAGER)
Research type
Research Study
Full title
EAGER (European Autism GEnomics Registry): establishing a whole-genome sequenced European cohort of people with autism spectrum conditions and rare genetic conditions
IRAS ID
318693
Contact name
Tony Charman
Contact email
Duration of Study in the UK
2 years, 0 months, 31 days
Research summary
EAGER (European Autism GEnomics Registry), part of the AIMS-2-TRIALS consortium, is a European multi-centre study which aims to create a registry of 1500 whole-genome sequenced participants with a diagnosis of autism and/or associated rare genetic conditions. The goal of EAGER is to better understand the genetic architecture of autism and associated rare genetic conditions, and to understand the relationship between genetics and outcomes (including neurodevelopmental conditions, mental health, and quality of life). EAGER also aims to create an infrastructure through which participants can be recontacted for future research studies or clinical trials. Clinical trials informed by the participant’s genetic makeup allow researchers to invite participants to studies most suitable to them. Our hope is that the EAGER registry will facilitate research across Europe, contributing to the development of evidence-based care for autistic people and those with associated rare genetic conditions across the IQ spectrum, improving quality of life through improving the speed and efficacy of clinical trials across Europe. Through EAGER, we will recruit a large sample of participants (n=1500) with a diagnosis of autism and/or associated rare genetic conditions. Participants will give a biological sample for whole-genome sequencing (their entire genome mapped out), complete an online questionnaire, and may consent to sharing pre-existing phenotypic and clinical data. In the UK, participants will be recruited from South London and Maudsley NHS Foundation Trust (SLaM), King’s College London (KCL), and Guy’s and St Thomas’ NHS Foundation Trust (GSTT). Our team at KCL are collaborating with 13 institutions across Europe (see appendix E1). This ethics application pertains only to UK study sites (SLaM, KCL, and GSTT) and all research activity described in this application will take place at UK study sites. The study is part of the AIMS-2-TRIALS (https://www.aims-2-trials.eu/) consortium and will run until May 2025.
REC name
South Central - Oxford C Research Ethics Committee
REC reference
23/SC/0022
Date of REC Opinion
5 May 2023
REC opinion
Further Information Favourable Opinion