Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs (SEESIC)

August 22, 2018 updated by: Hospices Civils de Lyon
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

18

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Bron, France
        • Hôpital Femme Mère Enfant (Groupement Hospitalier Est)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients presenting intellectual disability and carrying a 16p13.11 copy number variant.

Description

Inclusion Criteria:

  • Patients presenting intellectual disability
  • Patients carrying a 16p13.11 copy number variant
  • Blood DNA available without re sampling for the patient and his parents.
  • Consent for genetics analysis already for the patient and his parents.

Exclusion Criteria:

- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients
Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array.
Genetic: Exome sequencing
Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Second pathogenic molecular event on exome data
Time Frame: 4 months
Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines
4 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Investigators

  • Study Director: Nicolas CHATRON, MD, Hospices civils de Lyon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

September 1, 2018

Primary Completion (Anticipated)

December 1, 2018

Study Completion (Anticipated)

March 1, 2019

Study Registration Dates

First Submitted

July 5, 2018

First Submitted That Met QC Criteria

August 22, 2018

First Posted (Actual)

August 23, 2018

Study Record Updates

Last Update Posted (Actual)

August 23, 2018

Last Update Submitted That Met QC Criteria

August 22, 2018

Last Verified

August 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 69HCL17_0693

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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