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

NCT04141540 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 2

Last updated 2021-02-09

No results posted yet for this study

Summary

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-.

Conditions

  • Di George Syndrome

Interventions

GENETIC

Molecular analyses

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

Sponsors & Collaborators

  • Hôpital le Vinatier

    lead OTHER

Principal Investigators

  • DEMILY CAROLINE, MD PH.D · Centre Hospitalier le Vinatier & CNRS UMR 5229 (BRON, France)

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Max Age
45 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-03-27
Primary Completion
2020-11-30
Completion
2020-12-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04141540 on ClinicalTrials.gov