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Better Delineation of CDK13 Related Phenotype and Epigenetic Signature. (CDK13)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04382573
Recruitment Status : Recruiting
First Posted : May 11, 2020
Last Update Posted : May 14, 2020
Information provided by (Responsible Party):
University Hospital, Montpellier

Brief 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.

Condition or disease Intervention/treatment
Congenital Heart Defects Dysmorphic Facial Features and Intellectual Developmental Disorder Genetic: Epigenetic signatures

Detailed Description:

The investigators aim to better understand and delineate the genetic syndrome CDK13 This genetic disorder was described in Sepember 2016 in Nature Genetics (PMID 27479907).

Since this first publication of 6 individuals carrying the pathogenic mutation CDK13, 37 other individuals carrying a pathogenic mutation of CDK13 have been reported in the litterature The investigators are seeking to better define the phenotype of individuals with pathogenic variants of CDK13, to better understand intellectual functioning as well as the strengths and weaknesses of intellectual functioning by collecting standardized neuropsychological assessments already performed such as WPPSI/WISC and WAIS. For this purpose, The investigators will gather clinical and neuropsychological data already carried out in the context of care.

The investigators also aim to gather the cerebral MRI scans already performed in order to better delimit the cerebral anomalies observed in individuals and if the sequence is adapted, The investigators will perform VBM studies.

Finally, The investigators will attempt to identify an epigenetic signature in this genetic disease. To this end, The investigators will collect genomic DNA from peripheral blood already collected for genetic analysis and send an anonymized batch of samples to our collaborator, Dr. Bekim Sadicovik. Dr. Bekim Sadicovik and his team will compare the epigenetic DNA methylation-type markers with the corresponding sex and age controls. If specific probes are abnormally methylated in CDK13 individuals, this will determine a disease-specific epigenetic signature. The investigators will then be able to propose an epigenetic signature for individuals with uncharacterized CDK13 variations (class 3, VUS). This method will make it possible to define whether the variation is responsible for the disease or not without going through functional analysis steps that are difficult to implement routinely.

The expected benefits are a better understanding of CDK13 disease, keys to neuropsychological rehabilitation, a better understanding of human brain functions, the possibility of proposing an epigenetic signature for people in whom it is not possible to decide whether a variation in the CDK13 gene is pathological or not

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: CDK13 Related Disorder : Clinical Phenotype, Neuropsychological Profile, Brain MRI Characteristics and Epigenetic Signature.
Actual Study Start Date : November 1, 2019
Estimated Primary Completion Date : December 1, 2020
Estimated Study Completion Date : December 30, 2020

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
CDK13 intragenic pathogenic variant
Genetic: Epigenetic signatures
Epigenetic signatures (Dr Sadikovic' lab, London, Ontario, Canada)

Primary Outcome Measures :
  1. Evolution of clinical data [ Time Frame: 1 day ]
    Clinical data such as growth parameters, facial, neurological, ENT, eye, cardiac, etc.. features

  2. Neuropsychological test [ Time Frame: 1 day ]
    Neuropsychological test with total IQ and subscore data using WISC or WAIS test

Secondary Outcome Measures :
  1. Evolution of genetic data [ Time Frame: 1 day ]
    Evolution of genetic data : Epigenetic signatures

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with CDK13 intragenic pathogenic SNV (Single Nucleotide Variant)

Inclusion criteria:

- CDK13 intragenic pathogenic SNV (Single Nucleotide Variant)

Exclusion criteria:

  • no pathogenic SNV in CDK13
  • no consent for the study

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04382573

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Contact: David GENEVIEVE, MH PD 04 67 33 61 04 ext 33
Contact: Flavien ROUXEL, resident

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UH Montpellier Recruiting
Montpellier, France, 34295
Contact: David GENEVIEVE   
Contact: Flavien ROUXEL   
Sub-Investigator: Bekim SADIKOVIC, DR         
Sponsors and Collaborators
University Hospital, Montpellier
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Principal Investigator: David GENEVIEVE Department of Medical Genetics
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Responsible Party: University Hospital, Montpellier Identifier: NCT04382573    
Other Study ID Numbers: RECHMPL20_0279
First Posted: May 11, 2020    Key Record Dates
Last Update Posted: May 14, 2020
Last Verified: May 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: NC

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Montpellier:
CDK13-related disorder
Additional relevant MeSH terms:
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Intellectual Disability
Heart Defects, Congenital
Developmental Disabilities
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Neurodevelopmental Disorders
Mental Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases