Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression

Not Applicable

Recruiting

• Conditions: Psychiatric Disorder
• Interventions: Genetic: study of the transmission of genetic variants

• Registration Number: NCT05480826
• Lead Sponsor: Fondation FondaMental

Brief Summary

Genetic analyses conducted on patient with psychiatric disorders assessed at the expert centres resulted in the identific action of genetic variants associated with psychiatric disorders (Courtois, 2020). These data require further genetic and functional analyses. The first objective of this study is to investigate the disease-related inheritance of genetic variants in the families of individuals in whom these variants have been identified. The second objective is to explore the functional consequences of disease-associated genetic variants in patients cells and those of their relatives with and without these variants.

The present project aims to enrich existing biocollections with DNA from blood or saliva from relatives of patients identified with genetic variants. In addition, we wish to collect hair follicules from patients with identified genetic variants of interest and their family members who wish to participate in the study. These hair samples with SNA will be used to dedifferentiate the isolated cells into induced pluripotent stem cells (IPSCs), and then to differentiate them into cells expressing the gene of interest, such as neurons or astrocytes, or into more complex systems, such as brain organoids.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-07-26
• Study First Submitted QC: 2022-07-28
• Study First Posted: 2022-07-29
• Study Start: 2023-03-15
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-22
• Last Update Posted: 2024-04-23
• Primary Completion: 2027-09-15
• Study Completion: 2028-09-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• For patients:
• Subjects suffering from (according to DSM IV criteria) : Bipolar disorder, Unipolar depression, Schizophrenia, Autism spectrum disorder
• Age over 18 years
• Subject affiliated to the social security system
• Including patients under guardianship, curatorship,
• Patients included in the Fondation FondaMental cohort whose genetic analyses have revealed the need for comparative and functional genetic studies.
• Having signed the consent form

For relatives :

• Age over 18 years
• Relative of patient included in the Fondattion FondaMental cohort
• Including relative under guardianship, curatorship
• Having signed the consent
• Affiliated to social security

Exclusion Criteria

• For all subjects:
• Any condition that, in the opinion of the investigator, would make the subject's participation in the study undesirable or that would compromise compliance with the protocol
• Persons deprived of liberty
• Inability to understand French

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patients	study of the transmission of genetic variants	Subject suffering from (according to DSM IV criteria) * bipolar disorder * unipolar depression * schizophrenia * autism spectrum disorder Collection of hair follicle cells
Relatives	study of the transmission of genetic variants	Relatives of enrolled patients suffering from psychiatric disorder. * test to detect psychiatric disorders * blood or saliva sampling for genomic DNA extraction * Collection of hair follicle cells

Primary Outcome Measures

Name	Time	Method
Measure of the probability of having a psychiatric disorder given the presence of the genetic variant studied.	through study completion, an average of 5 years	Test for psychiatric disorders Study of the genetic variant of interest by sequencing or genotyping on genomic DNA.

Trial Locations

Locations (1)

Hopital Albert Chenevier; 🇫🇷 Créteil, France