Better Delineation of BCL11B Related Phenotype and Epigenetic Signature.

NCT04541927 | Completed

• 1 other identifier: RECHMPL20_0472
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

BCL11B 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 BCL11B 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 BCL11B pathogenic variants from several European and American genetic centres.

Conditions

Intellectual Developmental Disorder; BCL11B Related Disorder

Keywords

BCL11B related disorder

Outcome Measures

Primary Outcomes (2)

• Neuropsychological phenotype

  BCL11B related clinical and neuropsychological phenotype. Neuropsychological phenotype will be assessed using Wechsler scales. The phenotype of individuals will be assessed using a questionnaire sent to their geneticist

  1 day

• Measurement and comparison of the methylation of the cpg sites

  Epigenetic signature will be investigated by measurement and comparison of the methylation of the cpg sites

  1 day

Study Arms (1)

BCL11B

BCL11B intragenic pathogenic variant

Genetic: Epigenetic signatures

Interventions

Epigenetic signatures GENETIC

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

BCL11B

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 BCL11B intragenic pathogenic SNV (Single Nucleotide Variant)

You may qualify if:

• \- BCL11B intragenic pathogenic SNV (Single Nucleotide Variant)

You may not qualify if:

• no pathogenic SNV in BCL11B
• no consent for the study

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

UH Montpellier

Montpellier, 34295, France

Location

MeSH Terms

Conditions

Intellectual Disability

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• David GENEVIEVE

  Department of Medical Genetics

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: September 1, 2020
• First Posted: September 9, 2020
• Study Start: November 1, 2019
• Primary Completion: December 1, 2020
• Study Completion: December 1, 2020
• Last Updated: December 29, 2020

Record last verified: 2020-12

Locations

FR (1)