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Better Delineation of BCL11B Related Phenotype and Epigenetic Signature.

NCT04541927 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2020-12-29

No results posted yet for this study

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

Interventions

GENETIC

Epigenetic signatures

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

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • David GENEVIEVE · Department of Medical Genetics

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-11-01
Primary Completion
2020-12-01
Completion
2020-12-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04541927 on ClinicalTrials.gov