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Better Delineation of CDK13 Related Phenotype and Epigenetic Signature.

NCT04382573 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2020-05-14

No results posted yet for this study

Summary

CDK13 related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and malformation syndrome.

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 CDK13 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 CDK13 pathogenic variants from France and several European genetic centres.

Conditions

  • Congenital Heart Defects
  • Dysmorphic Facial Features and Intellectual Developmental 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
2020-12-30

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 NCT04382573 on ClinicalTrials.gov