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

NCT04141540 | Completed

• 1 other identifier: 2019-A00852-55
• Study Type: interventional
• Target: 2
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

22q11.2 Microdeletional

Outcome Measures

Primary Outcomes (1)

• Whole exome sequencing

  Searching for mosaic genetic variations that may have occurred secondarily to conception

  6 months

Secondary Outcomes (6)

• Transcriptome

  6 months

• Methylome

  6 months

• Microbiotic DNA

  6 months

• Positive And Negative Syndrome Scale (PANSS)

  6 months

• Mini-International Neuropsychiatric Interview (MINI)

  6 months

Study Arms (2)

Groupe "Twin 1"

OTHER

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

Genetic: Molecular analyses

Groupe "Twin 2"

OTHER

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

Genetic: Molecular analyses

Interventions

Molecular analyses GENETIC

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

Groupe "Twin 1"; Groupe "Twin 2"

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

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

You may not qualify if:

• Refusal to use data for research purposes

Sponsors & Collaborators

• Hôpital le Vinatier: lead

Study Sites (1)

Hopital Vinatier

Lyon, Auvergne-Rhône-Alpes, 69678, France

Location

MeSH Terms

Conditions

DiGeorge Syndrome

Interventions

Molecular Docking Simulation

Condition Hierarchy (Ancestors)

22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Models, Molecular; Models, Theoretical; Investigative Techniques

Study Officials

• DEMILY CAROLINE, MD PH.D

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: It's a study with a comparative monocentric cross-sectional analysis model.

Study Record Dates

• First Submitted: October 24, 2019
• First Posted: October 28, 2019
• Study Start: March 27, 2020
• Primary Completion: November 30, 2020
• Study Completion: December 30, 2020
• Last Updated: February 9, 2021

Record last verified: 2020-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)