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

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.

Study Overview

• Status: Recruiting
• Conditions: Psychiatric Disorder
• Intervention / Treatment: Genetic: study of the transmission of genetic variants

• Study Type: Interventional
• Enrollment (Estimated): 50
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Stephane JAMAIN, PhD; Phone Number: +33 149813775; Email: stephane.jamain@inserm.fr

Study Locations

• France
  • Créteil, France, 94000
    • Recruiting
    • Hôpital Albert Chenevier
    • Contact: Agnes PELLETIER, MD, PhD; Phone Number: +33 01.49.81.30.51; Email: agnes.pelletier@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Patients; Subject suffering from (according to DSM IV criteria); bipolar disorder; unipolar depression; schizophrenia; autism spectrum disorder Collection of hair follicle cells	Genetic: study of the transmission of genetic variants; the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
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	Genetic: study of the transmission of genetic variants; the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Fondation FondaMental
• Investigators: Study Chair: Marion Leboyer, MD PhD, Fondation FondaMental; Study Director: Stephane JAMAIN, PhD, Institut National de la Santé Et de la Recherche Médicale, France

Study record dates

Study Major Dates

• Study Start (Actual): March 15, 2023
• Primary Completion (Estimated): September 15, 2027
• Study Completion (Estimated): September 15, 2028

Study Registration Dates

• First Submitted: July 26, 2022
• First Submitted That Met QC Criteria: July 28, 2022
• First Posted (Actual): July 29, 2022

Study Record Updates

• Last Update Posted (Actual): April 23, 2024
• Last Update Submitted That Met QC Criteria: April 22, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Behavioral Symptoms; Mood Disorders; Schizophrenia Spectrum and Other Psychotic Disorders; Bipolar and Related Disorders; Neurodevelopmental Disorders; Child Development Disorders, Pervasive; Schizophrenia; Problem Behavior; Mental Disorders; Bipolar Disorder; Autism Spectrum Disorder
• Other Study ID Numbers: FF21-GENI; 2021-A02551-40 (Other Identifier: French National Agency for the Safety of Medicines and Health Products)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No