Clinical trial NCT05470088: MRI Study of Subjects with ASD, Their Relatives and TD
Official title: Magnetic Resonance Imaging Neuroanatomical Study of Patients with an Autism Spectrum Disorder, Their Relatives and Typically Developing Subjects.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Autism Spectrum Disorder
Keywords: neuroimaging
mri
phenotype
heritability
genes
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
Collaborators: name: APHP
name: Institut Pasteur
name: Commissariat A L'energie Atomique
First posted: 2022-07-22
Enrollment: 1000
Sex: ALL
Minimum age (years): 24
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Three groups of subjects above 24 months (no upper limit of age):

* subjects with ASD
* relatives of subjects with ASD
* typically developing controls

Brief summary: This project is structured around a central study called "Study of genetic factors involved in autism and related conditions ("Genes and Autism" study, sponsor: INSERM). This study explores clinical and genetic aspects of ASD (autism spectrum disorders) and is complemented with several ancillary studies (such as this one) which will use the data of the main study and will allow an extensive review of phenotypes associated with ASD.

In this ancillary study, we will go on the acquisition of anatomical, diffusion and functional MRI in subjects with ASD, relatives and controls. Our group has already performed several neuroanatomical studies of ASD. IWe recruited since 2010 more than 600 subjects (proponents, relatives and controls) to better understand the implication of brain abnormalities in ASD.

This study involves specialized teams in neuroiamging based at INSERM, NeuroSpin (CEA), Robert Debré Hospital (APHP) and Pasteur Institute

Our main objective is to identify structural, connectivity and functional peculiarities in subjects with ASD

Secondary objectives include:

* the identification of familial heritability patterns of ASD
* correlate data obtained in brain imaging with genetic data
* assess specificity and statistical reproducibility of the obtained results


Eligibility criteria: Inclusion Criteria:

* for patients:

  * being included in the main study "C16-89 - Study of genetic factors involved in ASD and related disorders"
  * having an ASD fulfilling DSM-5 diagnostic criteria (APA, 2012). Diagnosis will be done by a clinical expert, with the support of structured instruments (ADI-R, ADOS-2)
  * having at least 24 Months
  * being affiliated with the French health insurance
  * having signed the informed consent (by proposant or by legal tutors if the subject is \<18 or under legal custody)
* for relatives

  * being included in the main study "C16-89 - Study of genetic factors involved in ASD and related disorders"
  * having at least 24 Months
  * being affiliated with the French health insurance
  * having signed the informed consent (by proposant or by legal tutors if the subject is \<18 or under legal custody)
* for controls

  * being included in the main study "C16-89 - Study of genetic factors involved in ASD and related disorders"
  * having at least 24 Months
  * being affiliated with the French health insurance
  * having signed the informed consent (by proposant or by legal tutors if the subject is \<18 or under legal custody)

Non-inclusion criteria:

* for all subjects

  * severe mental retardation (IQ\<35 or developmental age\<18 months)
  * medical condition (either psychiatric or physical) not compatible with an inclusion
  * MRI counter indication
  * Current pregnancy or breastfeeding, assessed by questionnaire
  * Not willing to be informed of a brain abnormality diagnosed with MRI
* for the relatives

  \*discovery of non filiation during the genetic analyses
* for controls

  * Neurological history (except mental retardation)
  * Personal history of (checked with DIGS for Adults, Diagnostic Interview for Genetic Studies, Numberger et coll., 1994, or Kiddie SADS, Kiddie Schedule for Disorders and Schizophrenia for School Age Children, Orvaschel et coll., 1982): schizophrenia, addiction, bipolar disorder, recurrent depression (\> 2 episodes lifetime), severe, not stabilized anxiety disorder, history of episodes of epilepsy, significant inflammatory disease of immunosuppressive medication

Exclusion Criteria:

* for patients: ASD diagnosis not confirmed by assessments after the inclusion
* for all subjects: discovery of a counter indication to MRI during the exam (e.g. claustrophobia)

Primary outcomes:
measure: 3DT1 MRI derived variables
timeFrame: Day 0
measure: Resting state fMRI derived variables
timeFrame: Day 0
measure: Task based fMRI derived variables
timeFrame: Day 0
measure: Diffusion MRI derived variables
timeFrame: Day 0
measure: quantitative T1 and quantitative T2 MRI
timeFrame: Day 0
Secondary outcomes:
Other outcomes:
Locations:
city: Gif-sur-Yvette
country: France
facility: NeuroSpin neuroimaging platforme
city: Paris
country: France
facility: APHP, Hôpital Robert Debré
Study officials:
affiliation: APHP, France
name: Richard Delorme, M.D, Ph.D
role: PRINCIPAL_INVESTIGATOR
affiliation: Institut National de la Santé Et de la Recherche Médicale, France
name: Josselin Houenou, M.D, Ph.D
role: STUDY_CHAIR
References: