Multiplex (MPX) clinical study
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