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

NCT05480826 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2024-04-23

No results posted yet for this study

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.

Conditions

  • Psychiatric Disorder

Interventions

GENETIC

study of the transmission of genetic variants

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

Sponsors & Collaborators

  • Fondation FondaMental

    lead OTHER

Principal Investigators

  • Marion Leboyer, MD PhD · Fondation FondaMental

  • Stephane JAMAIN, PhD · Institut National de la Santé Et de la Recherche Médicale, France

Study Design

Allocation
NON_RANDOMIZED
Purpose
OTHER
Masking
SINGLE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-03-15
Primary Completion
2027-09-15
Completion
2028-09-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05480826 on ClinicalTrials.gov