Validation of a Clinical Screening Grid for Syndromic Schizophrenia

Schizophrenia Clinical Trial

— Schizo-CGH-EXM  

Official title:

Validation of a Clinical Screening Grid for Syndromic Schizophrenia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02746510
• Other study ID #: 2015-A01992-47
• Status: Recruiting
• Phase: N/A
• Start date: July 2016
• Est. completion date: December 2023

Study information

• Verified date: March 2022
• Source: Hôpital le Vinatier
• Contact: POISSON Alice, PH
• Phone: 00 33 4 37 91 51 63
• Email: alice.poisson[@]ch-le-vinatier.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Background:

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: December 2023
• Est. primary completion date: February 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 15 Years and older

Eligibility

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

Related Conditions & MeSH terms

• 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.

Locations

Country	Name	City	State
France	CH Le Vinatier	BRON Cedex	Rhône-Alpes

Sponsors (2)

Lead Sponsor	Collaborator
Hôpital le Vinatier	Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	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