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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02746510
Recruitment Status : Recruiting
First Posted : April 21, 2016
Last Update Posted : March 16, 2022
Sponsor:
Collaborator:
Hospices Civils de Lyon
Information provided by (Responsible Party):
Hôpital le Vinatier

Study Description
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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.


Condition or disease Intervention/treatment Phase
Schizophrenia Genetic: Array comparative genomic hybridization Not Applicable

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 Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 150 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Validation of a Clinical Screening Grid for Syndromic Schizophrenia
Actual Study Start Date : July 2016
Estimated Primary Completion Date : February 2023
Estimated Study Completion Date : December 2023

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Schizophrenia

Arms and Interventions
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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.


Outcome Measures
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Primary Outcome Measures :
  1. Presence or absence of each criteria from the grid. [ Time Frame: During the inclusion visit (45 minutes) ]

    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



Secondary Outcome Measures :
  1. Presence or absence of a pathogenic CNV detected on the CGH-a [ Time Frame: 4 months from samples to results ]
    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.

  2. Whole exome sequencing [ Time Frame: 6 months ]
    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


Eligibility Criteria
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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02746510


Contacts
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Contact: POISSON Alice, PH 00 33 4 37 91 51 63 alice.poisson@ch-le-vinatier.fr
Contact: Demily Caroline, PH 00 33 4 37 91 51 63 caroline.demily@ch-le-vinatier.fr

Locations
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France
CH Le Vinatier Recruiting
BRON Cedex, Rhône-Alpes, France, 69678
Contact: POISSON ALICE, PH    0437915163    alice.poisson@ch-le-vinatier.fr   
Contact: VIAL VERONIQUE    0437915531    veronique.vial@ch-le-vinatier.fr   
Sponsors and Collaborators
Hôpital le Vinatier
Hospices Civils de Lyon
Investigators
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Principal Investigator: POISSON Alice, PH Centre Hospitalier le Vinatier
More Information
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Responsible Party: Hôpital le Vinatier
ClinicalTrials.gov Identifier: NCT02746510    
Other Study ID Numbers: 2015-A01992-47
First Posted: April 21, 2016    Key Record Dates
Last Update Posted: March 16, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Schizophrenia
Schizophrenia Spectrum and Other Psychotic Disorders
Mental Disorders