Clinical Studies in CANDY

This is the first study to track the heritability of rare genetic risk variants for several neurodevelopmental conditions. Neurodevelopmental conditions likely result from a combination of both rare genetic variants and many common low-risk variants. In this study, we are looking at families with at least 2 children with neurodevelopmental conditions.

The study is called the “Identification of genetic factors involved in neurodevelopmental conditions in multiplex families” (Multiplex). It will involve “multiplex” families that are defined as families with one child with autism, at least one other child with autism, ID, ADHD or epilepsy, and unaffected siblings when possible. All participants will be evaluated directly by a psychiatrist or psychologist who are experts in the field of autism, ADHD, ID or epilepsy, respectively, and experienced in the use of standardized or semi-standardized clinical instruments.

Blood samples will be taken for genetic analyses. We will perform whole genome sequencing to identify major rare variants associated with neurodevelopmental conditions. The special study design will allow us to examine and separate the burden of de novo mutations, the presence of rare deleterious variants and the effects of common genes (genetic background).

The Multiplex study will inform us on the molecular pathways involved in the different conditions. Thereby, it is moving away from categorical disease classifications toward an understanding of the mechanisms that are shared and distinct between neurodevelopmental conditions. The overall aim is to identify treatment targets based on aetiology (cause of the condition) and not merely on symptomatology (symptoms of the condition).

Leaders of the Multiplex study

Lead organisation: Assistance Publique des Hôpitaux de Paris
Lead: Prof Richard Delorme
Principle Investigators: Prof Richard Delorme, Prof Jan Buitelaar, Dr Eva Loth, Prof Declan Murphy, Prof Herbert Roeyers, Dr Terje Falck-Ytter, Prof Sven Bölte
Research Centres: Assistance Publique des Hôpitaux de Paris, Radboud University, King’s College London, University of Ghent, Karolinska Institutet

Ethical considerations are embedded into each study from the very beginning

All of the individual research studies will go through local or national Ethics Committees and Regulatory Authorities. All studies are required to follow with international, national and European Union laws. They will also comply with ethical principles, including research integrity, and with the EU General Data Protection Regulation (GDPR).

Studies that involve people will place particular emphasis on: appropriate study design; expertise of the investigators performing the study; the rigour of the local approval process; the validity of informed consent; minimizing risks to participants; possible benefits to autistic individuals; data protection and privacy. All research studies are led by investigators who have an established track record of excellent scientific work. Our external Ethical Advisory Board (link) will be able to provide input and feedback on the research, including ethical considerations.

For added oversight, the ethical issues of all studies are coordinated across the whole project, following guidelines for ethics management as set by our funder the European Commission. The coordination of ethics across the programme is led by Radboud University. Radboud University will be responsible to storing and collating information about ethics and any regulatory approvals from every site and country involved in each research project and will coordinate the production of a regular ethics report that will be written after every 18 months.