Validation of a Clinical Screening Grid for Syndromic Schizophrenia

NCT ID: NCT02746510

Last Updated: 2025-03-06

Basic Information

• Recruitment Status: TERMINATED
• Clinical Phase: NA
• Total Enrollment: 129 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-07-31
• Study Completion Date: 2023-12-20

Brief Summary

Background:

Nowadays, despite a large number of studies about schizophrenia and genetics, clinical red flags for syndromic forms of schizophrenia remain poorly documented.

Detailed Description

Methods: This study aims to validate a short clinical screening grid for syndromic forms of schizophrenia linked to a pathogenic Copy Variation Number (CNV). The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV).

In subjects with no CNV that may explain the onset of schizophrenia, the investigators would like to complete the investigations with exome trio sequencing. With this type of very clinical approach, the investigators wish to determine which semiological elements should alert the psychiatrists as to the presence of a syndromic form. The objective is to propose at the end of this study a simple and reliable scale, usable in psychiatry consultation, to guide the genetic screening of forms of syndromic schizophrenia.

Conditions

Schizophrenia

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

Array comparative genomic hybridization

The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV) or a pathogenic sequence variation (exome trio sequencing).

Group Type: EXPERIMENTAL

Array comparative genomic hybridization

Intervention Type: GENETIC

For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed.

Interventions

Array comparative genomic hybridization

For each of the 150 patients deoxyribose nucleic acid (DNA) exactracted from a jugal mucosae sample will be analysed by the cytogeneticist and a CGH-a will be performed.

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• Patient aged 15 years and more with a schizophrenia defined by the DSM V criterion
• Informed consent signed by the patient or he/she's legal representant

Exclusion Criteria

• Pregnancy
• Current psychotic decompensation
• Patient with a known genetic syndrome

• Minimum Eligible Age: 15 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Hospices Civils de Lyon

OTHER

Sponsor Role: collaborator

Hôpital le Vinatier

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

POISSON Alice, PH

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier le Vinatier

Locations

CH Le Vinatier

Bron, Auvergne-Rhône-Alpes, France

Countries

France

Other Identifiers

2015-A01992-47

Identifier Type: -

Identifier Source: org_study_id