Better Delineation of YY1 Related Phenotype and Epigenetic Signatures.

NCT04381715 | Unknown

• 1 other identifier: RECHMPL20_0272
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

YY1 related disorder, also known as Gabriele-de-Vries syndrome, is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile, and the brain MRI characteristics; and, second, to study the epigenetic signatures in a cohort of individuals with YY1 intragenic pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France. Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have either CD-ROM or a link to have access to the brain MRI data as well as a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab. Between 2019 and 2020, the investigators have already recruited data from individuals with YY1 pathogenic variants from several European and American genetic centres.

Conditions

YY1 Related Disorder

Keywords

YY1

Outcome Measures

Primary Outcomes (2)

• YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description

  YY1 related clinical and neuropsychological phenotype phenotype and brain MRI description

  1 day

• Evolution of genetic data

  Evolution of genetic data

  1 day

Study Arms (1)

YY1

YY1 intragenic pathogenic variant

Genetic: Epigenetic signatures

Interventions

Epigenetic signatures GENETIC

Epigenetic signatures (Dr Sadikovic' lab, London, Ontario, Canada)

YY1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with YY1 intragenic pathogenic SNV (Single Nucleotide Variant)

You may qualify if:

• \- YY1 intragenic pathogenic SNV (Single Nucleotide Variant)

You may not qualify if:

• no pathogenic SNV in YY1
• no consent for the study

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

UH Montpellier

Montpellier, 34295, France

RECRUITING

Study Officials

• David GENEVIEVE

  Department of Medical Genetics

  PRINCIPAL INVESTIGATOR

Central Study Contacts

David GENEVIEVE, MH PD

CONTACT

04 67 33 61 04; d-genevieve@chu-montpellier.fr

Pauline MONIN, Resident

CONTACT

p-monin@chu-montpellier.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 6, 2020
• First Posted: May 11, 2020
• Study Start: May 1, 2020
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2020
• Last Updated: May 14, 2020

Record last verified: 2020-05

Locations

FR (1)