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

Psychiatric Disorder Clinical Trial

— GENI  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05480826
• Other study ID #: FF21-GENI
• Secondary ID: 2021-A02551-40
• Status: Recruiting
• Phase: N/A
• Start date: March 15, 2023
• Est. completion date: September 15, 2028

Study information

• Verified date: April 2024
• Source: Fondation FondaMental
• Contact: Stephane JAMAIN, PhD
• Phone: 149813775
• Email: stephane.jamain[@]inserm.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 50
• Est. completion date: September 15, 2028
• Est. primary completion date: September 15, 2027
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Bipolar Disorder
• Mental Disorders
• Problem Behavior
• Psychiatric Disorder
• Schizophrenia

Intervention

Genetic:
• study of the transmission of genetic variants
the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA

Locations

Country	Name	City	State
France	Hopital Albert Chenevier	Créteil

Sponsors (1)

Lead Sponsor	Collaborator
Fondation FondaMental

Country where clinical trial is conducted

France, 

Outcome

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