Recruiting

NCT Number: NCT05480826

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

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Psychiatric Disorder Mental Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hopital Albert Chenevier

Créteil, 94000, France

Location status: Recruiting

Location contact

Agnes PELLETIER, MD, PhD

CONTACT

[email protected]

01.49.81.30.51 ext. +33

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

study of the transmission of genetic variants

Genetic

the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA

Primary outcomes

Measure of the probability of having a psychiatric disorder given the presence of the genetic variant studied.

Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Stephane JAMAIN, PhD

CONTACT

[email protected]

149813775 ext. +33

Sponsors and collaborators

Lead sponsor

Fondation FondaMental

Other

Registry information

Acronym: GENI

Important dates

Study start: 2023
Primary completion: 2027
Study completion: 2028
First posted: Jul 29, 2022
Registry last updated: Apr 23, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting