Validation of a Clinical Screening Grid for Syndromic Schizophrenia

NCT02746510 | Terminated DMC

• 1 other identifier: 2015-A01992-47
• Study Type: interventional
• Target: 129
• Locations: 1 country
• Sites: 1

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.

Conditions

Schizophrenia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Presence or absence of a pathogenic CNV detected on the CGH-a

  4 months from samples to results

• Whole exome sequencing

  6 months

Study Arms (1)

Array comparative genomic hybridization

EXPERIMENTAL

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

Interventions

Array comparative genomic hybridization 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.

Array comparative genomic hybridization

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Hôpital le Vinatier: lead
• Hospices Civils de Lyon: collaborator

Study Sites (1)

CH Le Vinatier

Bron, Auvergne-Rhône-Alpes, 69678, France

Location

MeSH Terms

Conditions

Schizophrenia

Interventions

Comparative Genomic Hybridization

Condition Hierarchy (Ancestors)

Schizophrenia Spectrum and Other Psychotic Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Cytogenetic Analysis; Genetic Techniques; Investigative Techniques; Molecular Diagnostic Techniques; Nucleic Acid Hybridization

Study Officials

• POISSON Alice, PH

  Centre Hospitalier le Vinatier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 18, 2016
• First Posted: April 21, 2016
• Study Start: July 1, 2016
• Primary Completion: February 1, 2023
• Study Completion: December 20, 2023
• Last Updated: March 6, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)