Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11

NCT ID: NCT04141540

Last Updated: 2021-02-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

2 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-03-27

Study Completion Date

2020-12-30

Brief Summary

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The 22q11.2 microdeletion syndrome (22q11.2DS) is a rare disease with a psychiatric phenotype. Indeed, the diagnosis of schizophrenia is made in 5 to 10% of adolescents and 25 to 40% of adults carrying the 22q11DS. Thus, although this pathology has been able to provide a genetically homogeneous model for the study psychosis etiology, it is not currently possible to establish a link between genomic rearrangement and psychotic symptoms. However, this robust model of genetic vulnerability could provide us a lot of translational informations about schizophrenia genetics. To go furthermore, twin studies have provided us precious data for the study of hereditary diseases. Combining this two approaches, the translational 22q11.2 project proposes a molecular study of two monozygotic 22q11.2DS twins discordant for the psychiatric phenotype -one carrying schizophrenia and the other having no psychiatric symptoms-.

Detailed Description

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The main objective of the study is to propose a whole exome sequencing (WES), pan-genomic in whole genome sequencing (WGS), transcriptomic, epigenomic and intestinal microbiome approaches in order to determine specific molecular basis of psychotic symptoms in 22q11.2DS.

Conditions

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Di George Syndrome

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

It's a study with a comparative monocentric cross-sectional analysis model.
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Groupe "Twin 1"

Twin 1 with psychotic symptoms (PANSS +) Molecular analyses 1

Group Type OTHER

Molecular analyses

Intervention Type GENETIC

Comparaison of the molecular profil between two monozygotic twins carrying a deletion 22q11.2

Groupe "Twin 2"

Twin 2 without psychotic symptoms (PANSS +) Molecular analyses 2

Group Type OTHER

Molecular analyses

Intervention Type GENETIC

Comparaison of the molecular profil between two monozygotic twins carrying a deletion 22q11.2

Interventions

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Molecular analyses

Comparaison of the molecular profil between two monozygotic twins carrying a deletion 22q11.2

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* • Sisterhood of monozygotic twins diagnosed with de novo 22q11.2DS is confirmed by CGH array and discordant for the psychiatric phenotype

Exclusion Criteria

* • Refusal to use data for research purposes
Minimum Eligible Age

18 Years

Maximum Eligible Age

45 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Hôpital le Vinatier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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DEMILY CAROLINE, MD PH.D

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier le Vinatier & CNRS UMR 5229 (BRON, France)

Locations

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Hopital Vinatier

Lyon, Auvergne-Rhône-Alpes, France

Site Status

Countries

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France

Other Identifiers

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2019-A00852-55

Identifier Type: -

Identifier Source: org_study_id

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