Official Title
Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
Brief Title
Familial and Functional Study of Genetic Variants Identified in People With Schizophrenia, Bipolar Disorder, Autism Spectrum Disorder or Resistant Depression
Protocol ID
NCT05480826
Lead Sponsor
Fondation FondaMental
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.
Study Period
-
Enrollment Count
50 participants
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
Filters
Psychiatric Disorder
NA
RECRUITING
ADULT
OLDER_ADULT