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

NCT05480826 | Recruiting

• 2 other identifiers: FF21-GENI2021-A02551-40
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

Patients

OTHER

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

Relatives

OTHER

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

Interventions

study of the transmission of genetic variants GENETIC

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

Patients; Relatives

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Fondation FondaMental: lead

Study Sites (1)

Hopital Albert Chenevier

Créteil, 94000, France

RECRUITING

MeSH Terms

Conditions

Mental Disorders

Study Officials

• Marion Leboyer, MD PhD

  Fondation FondaMental

  STUDY CHAIR

• Stephane JAMAIN, PhD

  Institut National de la Santé Et de la Recherche Médicale, France

  STUDY DIRECTOR

Central Study Contacts

Stephane JAMAIN, PhD

CONTACT

149813775; stephane.jamain@inserm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 2 groups of subjects are enrolled in the study: * patients with a mental disorder * relatives of patients included

Study Record Dates

• First Submitted: July 26, 2022
• First Posted: July 29, 2022
• Study Start: March 15, 2023
• Primary Completion (Estimated): September 15, 2027
• Study Completion (Estimated): September 15, 2028
• Last Updated: April 23, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)