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

• ClinicalTrials.gov Identifier: NCT02746510
• Recruitment Status: Unknown
• First Posted: April 21, 2016
• Last Update Posted: March 16, 2022
• Sponsor: Hôpital le Vinatier
• Collaborator: Hospices Civils de Lyon
• Information provided by (Responsible Party): Hôpital le Vinatier

Tracking Information

• First Submitted Date: April 18, 2016
• First Posted Date: April 21, 2016
• Last Update Posted Date: March 16, 2022
• Actual Study Start Date: July 2016
• Estimated Primary Completion Date: February 2023 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: April 18, 2016)

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

• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: November 18, 2019)

• 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.
• 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

Original Secondary Outcome Measures (submitted: April 18, 2016)

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.

• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Validation of a Clinical Screening Grid for Syndromic Schizophrenia
• Official Title: Validation of a Clinical Screening Grid for Syndromic Schizophrenia

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.

• Study Type: Interventional
• Study Phase: Not Applicable
• Study Design: Allocation: N/A; Intervention Model: Single Group Assignment; Masking: None (Open Label); Primary Purpose: Diagnostic
• Condition: Schizophrenia

Intervention

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.

Study Arms

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).

Intervention: Genetic: Array comparative genomic hybridization

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Unknown status
• Estimated Enrollment (submitted: April 18, 2016): 150
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: December 2023
• Estimated Primary Completion Date: February 2023 (Final data collection date for primary outcome measure)

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 15 Years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: France

Administrative Information

• NCT Number: NCT02746510
• Other Study ID Numbers: 2015-A01992-47
• Has Data Monitoring Committee: Yes
• U.S. FDA-regulated Product: Not Provided

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Hôpital le Vinatier
• Original Responsible Party: Same as current
• Current Study Sponsor: Hôpital le Vinatier
• Original Study Sponsor: Same as current
• Collaborators: Hospices Civils de Lyon

Investigators

• Principal Investigator: POISSON Alice, PH; Centre Hospitalier le Vinatier

• PRS Account: Hôpital le Vinatier
• Verification Date: March 2022