Validation of a Clinical Screening Grid for Syndromic Schizophrenia (Schizo-CGH-EXM)

Background:

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

Study Overview

• Status: Terminated
• Conditions: Schizophrenia
• Intervention / Treatment: Genetic: Array comparative genomic hybridization

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.

• Study Type: Interventional
• Enrollment (Actual): 129
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Rhône-Alpes
    • BRON Cedex, Rhône-Alpes, France, 69678
      • CH Le Vinatier

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 15 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: 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).

Genetic: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence or absence of each criteria from the grid.	The following criteria are evaluated: Intelectual disability Precocity of the disease (before 15 years) Treatment resistance Confusion Familial history of schizophrenia Visual hallucination Psychomotor regression Pyramidal syndrome Ataxia Dystonia Areflexia Epilepsia Autism spectrum disorder Dysmorphic features ENT or visceral malformation Growth delay	During the inclusion visit (45 minutes)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence or absence of a pathogenic CNV detected on the CGH-a	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. The results will be transmited to the principal investigator. The latter will transmit the results to the patients. If necessary a genetic counselling will be provided by a geneticist.	4 months from samples to results
Whole exome sequencing	Searching for mosaic genetic variations that may have occurred secondarily to conception in 30 subjects with ARRAY CGH who do not find any chromosomal imbalance that could explain the symptoms	6 months

Collaborators and Investigators

• Sponsor: Hôpital le Vinatier
• Collaborators: Hospices Civils de Lyon
• Investigators: Principal Investigator: POISSON Alice, PH, Centre Hospitalier le Vinatier

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2016
• Primary Completion (Actual): February 1, 2023
• Study Completion (Actual): December 20, 2023

Study Registration Dates

• First Submitted: April 18, 2016
• First Submitted That Met QC Criteria: April 18, 2016
• First Posted (Estimated): April 21, 2016

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 4, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Schizophrenia Spectrum and Other Psychotic Disorders; Mental Disorders; Schizophrenia
• Other Study ID Numbers: 2015-A01992-47

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO