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: Recruiting
• First Posted: July 29, 2022
• Last Update Posted: April 23, 2024
• Sponsor: Fondation FondaMental
• Information provided by (Responsible Party): Fondation FondaMental

Tracking Information

• First Submitted Date: July 26, 2022
• First Posted Date: July 29, 2022
• Last Update Posted Date: April 23, 2024
• Actual Study Start Date: March 15, 2023
• Estimated Primary Completion Date: September 15, 2027 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: July 28, 2022)

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.

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

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

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.

• Detailed Description: Not Provided
• Study Type: Interventional
• Study Phase: Not Applicable

Study Design

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

• Condition: Psychiatric Disorder

Intervention

Genetic: study of the transmission of genetic variants

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

Study Arms

• Patients

  Subject suffering from (according to DSM IV criteria)

  • bipolar disorder
  • unipolar depression
  • schizophrenia
  • autism spectrum disorder

  Collection of hair follicle cells

  Intervention: Genetic: study of the transmission of genetic variants
• 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
  Intervention: Genetic: study of the transmission of genetic variants

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: July 28, 2022): 50
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: September 15, 2028
• Estimated Primary Completion Date: September 15, 2027 (Final data collection date for primary outcome measure)

Eligibility 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

Contacts

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

• Listed Location Countries: France

Administrative Information

• NCT Number: NCT05480826
• Other Study ID Numbers: FF21-GENI; 2021-A02551-40 ( Other Identifier: French National Agency for the Safety of Medicines and Health Products )
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

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

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Fondation FondaMental
• Original Responsible Party: Same as current
• Current Study Sponsor: Fondation FondaMental
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

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

• PRS Account: Fondation FondaMental
• Verification Date: April 2024