Better Delineation of CDK13 Related Phenotype and Epigenetic Signature.

NCT04382573 | Unknown

• 1 other identifier: RECHMPL20_0279
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Heart Defects; Dysmorphic Facial Features and Intellectual Developmental Disorder

Keywords

CDK13-related disorder

Outcome Measures

Primary Outcomes (2)

• Evolution of clinical data

  Clinical data such as growth parameters, facial, neurological, ENT, eye, cardiac, etc.. features

  1 day

• Neuropsychological test

  Neuropsychological test with total IQ and subscore data using WISC or WAIS test

  1 day

Secondary Outcomes (1)

• Evolution of genetic data

  1 day

Study Arms (1)

CDK13

CDK13 intragenic pathogenic variant

Genetic: Epigenetic signatures

Interventions

Epigenetic signatures GENETIC

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

CDK13

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 CDK13 intragenic pathogenic SNV (Single Nucleotide Variant)

You may qualify if:

• \- CDK13 intragenic pathogenic SNV (Single Nucleotide Variant)

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

UH Montpellier

Montpellier, 34295, France

RECRUITING

MeSH Terms

Conditions

Heart Defects, Congenital; Intellectual Disability

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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

Central Study Contacts

David GENEVIEVE, MH PD

CONTACT

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

Flavien ROUXEL, resident

CONTACT

f-rouxel@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: November 1, 2019
• Primary Completion: December 1, 2020
• Study Completion: December 30, 2020
• Last Updated: May 14, 2020

Record last verified: 2020-05

Locations

FR (1)