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

• ClinicalTrials.gov Identifier: NCT05480826
• Recruitment Status: Not yet recruiting
• First Posted: July 29, 2022
• Last Update Posted: February 15, 2023
• Sponsor: Fondation FondaMental
• Information provided by (Responsible Party): Fondation FondaMental

Study Description

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.

Condition or disease	Intervention/treatment	Phase
Psychiatric Disorder	Genetic: study of the transmission of genetic variants	Not Applicable

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 50 participants
• Allocation: Non-Randomized
• Intervention Model: Parallel Assignment

Intervention Model Description

2 groups of subjects are enrolled in the study:

• patients with a mental disorder
• relatives of patients included

• Masking: Single (Outcomes Assessor)
• Primary Purpose: Other
• Official Title: Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
• Estimated Study Start Date: March 15, 2023
• Estimated Primary Completion Date: September 15, 2027
• Estimated Study Completion Date: September 15, 2028

Arms and Interventions

Arm	Intervention/treatment
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
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

Outcome Measures

Primary Outcome Measures :

1. 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.

Eligibility Criteria

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

Criteria

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

Contacts and Locations

Contacts

Contact: Stephane JAMAIN, PhD; 149813775 ext +33; stephane.jamain@inserm.fr

Sponsors and Collaborators

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

More Information

• Responsible Party: Fondation FondaMental
• ClinicalTrials.gov Identifier: NCT05480826
• Other Study ID Numbers: FF21-GENI; 2021-A02551-40 ( Other Identifier: French National Agency for the Safety of Medicines and Health Products )
• First Posted: July 29, 2022
• Last Update Posted: February 15, 2023
• Last Verified: February 2023

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Disease; Schizophrenia; Bipolar Disorder; Autism Spectrum Disorder; Mental Disorders; Problem Behavior; Pathologic Processes; Behavioral Symptoms; Schizophrenia Spectrum and Other Psychotic Disorders; Bipolar and Related Disorders; Child Development Disorders, Pervasive; Neurodevelopmental Disorders