RecruitingNot ApplicableNCT05480826

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


Sponsor

Fondation FondaMental

Enrollment

50 participants

Start Date

Mar 15, 2023

Study Type

INTERVENTIONAL

Conditions

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

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study is investigating genetic variants (specific changes in DNA) found in people with schizophrenia, bipolar disorder, autism spectrum disorder, or treatment-resistant depression — and comparing them with family members — to better understand what these genetic changes actually do in the body and brain. **You may be eligible if...** - You are 18 or older - You have been diagnosed with schizophrenia, bipolar disorder, autism spectrum disorder, or treatment-resistant (unipolar) depression - You are part of or connected to the FondaMental Foundation research cohort, and your genetic analysis indicated further study is needed - Family members of enrolled patients may also be eligible - People under legal guardianship may participate with appropriate consent arrangements **You may NOT be eligible if...** - You are not able to understand French - You are currently deprived of liberty (e.g., incarcerated) - Any condition makes participation medically inadvisable according to the investigator Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICstudy of the transmission of genetic variants

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


Locations(1)

Hopital Albert Chenevier

Créteil, France

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NCT05480826


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