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

Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
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• 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

Locations
Other Locations
France
Hopital Albert Chenevier
RECRUITING
Créteil
Contact Information
Primary
Stephane JAMAIN, PhD
stephane.jamain@inserm.fr
149813775
Time Frame
Start Date: 2023-03-15
Estimated Completion Date: 2028-09-15
Participants
Target number of participants: 50
Treatments
Other: Patients
Subject suffering from (according to DSM IV criteria)~* bipolar disorder~* unipolar depression~* schizophrenia~* autism spectrum disorder~Collection of hair follicle cells
Other: Relatives
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
Sponsors
Leads: Fondation FondaMental

This content was sourced from clinicaltrials.gov