Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: study of the transmission of genetic variants.
- Who it may be relevant to
- Registry conditions: Psychiatric Disorder. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Genetic study of the transmission of genetic variants
the genetic variants of interest will be investigated by sequencing or genotyping on genomic DNA
Primary outcome measures
- 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]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- Non-randomized
- Model
- Parallel assignment
- Masking
- Single blind
- Primary purpose
- Other
Study locations
France · 1 center
- Hopital Albert Chenevier — Créteil
Identifiers
NCT: NCT05480826 · FF21-GENI · 2021-A02551-40