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
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Stephane JAMAIN, PhD
- Phone Number: +33 149813775
- Email: stephane.jamain@inserm.fr
Study Locations
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Créteil, France, 94000
- Recruiting
- Hôpital Albert Chenevier
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Contact:
- Agnes PELLETIER, MD, PhD
- Phone Number: +33 01.49.81.30.51
- Email: agnes.pelletier@aphp.fr
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
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
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
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Other: Patients
Subject suffering from (according to DSM IV criteria)
Collection of hair follicle cells |
the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
|
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Other: Relatives
Relatives of enrolled patients suffering from psychiatric disorder.
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the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
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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.
Time Frame: through study completion, an average of 5 years
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Test for psychiatric disorders Study of the genetic variant of interest by sequencing or genotyping on genomic DNA.
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through study completion, an average of 5 years
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Collaborators and Investigators
Sponsor
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)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
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)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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