NCT05470088

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

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Timeline
162mo left

Started Mar 2022

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress24%
Mar 2022Sep 2039

Study Start

First participant enrolled

March 13, 2022

Completed
4 months until next milestone

First Submitted

Initial submission to the registry

July 20, 2022

Completed
2 days until next milestone

First Posted

Study publicly available on registry

July 22, 2022

Completed
14.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 13, 2037

Expected
2.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

September 13, 2039

Last Updated

March 13, 2025

Status Verified

March 1, 2025

Enrollment Period

15 years

First QC Date

July 20, 2022

Last Update Submit

March 11, 2025

Conditions

Keywords

neuroimagingmriphenotypeheritabilitygenes

Outcome Measures

Primary Outcomes (5)

  • 3DT1 MRI derived variables

    Cortical folding Cortical thickness Cortical surface Cortical, white matter and subcortical volumes

    Day 0

  • Resting state fMRI derived variables

    Whole-brain BOLD signal correlations

    Day 0

  • Task based fMRI derived variables

    BOLD activation signals BOLD signal correlations

    Day 0

  • Diffusion MRI derived variables

    Fractional anisotropy and mean diffusivity NODDI derived variables

    Day 0

  • quantitative T1 and quantitative T2 MRI

    Myelin Water Fraction

    Day 0

Study Arms (3)

Subjects with Autism Spectrum Disorders

Other: Neuroimaging (MRI)

Relatives of subjects with Autism Spectrum Disorders

Other: Neuroimaging (MRI)

Typically developing subjects

Other: Neuroimaging (MRI)

Interventions

Multimodal magnetic resonance imaging

Relatives of subjects with Autism Spectrum DisordersSubjects with Autism Spectrum DisordersTypically developing subjects

Eligibility Criteria

Age24 Months+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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

You may qualify if:

  • 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
  • +11 more criteria

You may not qualify if:

  • for all subjects: discovery of a counter indication to MRI during the exam (e.g. claustrophobia)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

NeuroSpin neuroimaging platforme

Gif-sur-Yvette, 91191, France

NOT YET RECRUITING

APHP, Hôpital Robert Debré

Paris, 75019, France

RECRUITING

MeSH Terms

Conditions

Autism Spectrum Disorder

Interventions

NeuroimagingMagnetic Resonance Spectroscopy

Condition Hierarchy (Ancestors)

Child Development Disorders, PervasiveNeurodevelopmental DisordersMental Disorders

Intervention Hierarchy (Ancestors)

Diagnostic ImagingDiagnostic Techniques and ProceduresDiagnosisDiagnostic Techniques, NeurologicalInvestigative TechniquesSpectrum AnalysisChemistry Techniques, Analytical

Study Officials

  • Richard Delorme, M.D, Ph.D

    APHP, France

    PRINCIPAL INVESTIGATOR
  • Josselin Houenou, M.D, Ph.D

    Institut National de la Santé Et de la Recherche Médicale, France

    STUDY CHAIR

Central Study Contacts

Richard Delorme, M.D, Ph.D

CONTACT

Josselin Houenou, M.D, Ph.D

CONTACT

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 20, 2022

First Posted

July 22, 2022

Study Start

March 13, 2022

Primary Completion (Estimated)

March 13, 2037

Study Completion (Estimated)

September 13, 2039

Last Updated

March 13, 2025

Record last verified: 2025-03

Locations