Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia (HCD GENE)

June 23, 2016 updated by: Assistance Publique - Hôpitaux de Paris
In isolated congenital diaphragmatic hernia (CDH), recurrent risk is low suggesting the occurrence of novo mutations (dominant or recessive). Our objective is to test this hypothesis by combining the search for pathogenic genomic alteration and intragenic mutations through whole exome sequencing in a homogenous group of patients.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

To elucidate the genetic basis of non syndromic congenital diaphragmatic hernia in a sub group of individuals with similar phenotype: Isolated CDH presenting with postero-lateral-left diaphragmatic defect with good perinatal outcome (n=16) To establish the prevalence of the identified gene(s) in a cohort of identical patients (n=30)

Two complementary approaches will be used:

  • Search for pathogenic genomic alterations using microarrays (~2.106 markers (SNP and CNV) in 16 trios (affected child and 2 parents).
  • Sequencing of the whole exome from patient genomic DNA (n=16)
  • Selection of unknown or very rare variants according to different criteria: recessive or dominant model, prediction of their pathogenicity, filtered on genes already known in CDH or involved in diaphragmatic development and non annotated CNV or variants of new gene(s) shared by different patients.
  • Variants will be validated by Sanger sequencing (for intragenic variants) or quantitative PCR (for CNV) on CDH cases and their parents as well as their absence on 100 controls.

Study Type

Observational

Enrollment (Actual)

73

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
      • Clamart, France, 92141
        • Hôpital Béclère

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

3 months and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Babies with CDH who delivered if centers included in the "Centre For Rare Disease for Congenital Diaphragmatic Hernia"

Description

Inclusion Criteria:

  • Families with one (or more) non syndromic CDH child
  • Signed consent form

Exclusion Criteria:

  • Syndromic CDH or associated with a known karyotype anomaly
  • No signed consent form
  • Not affiliated to French social security

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 and Families with isolated non syndromic CDH cases
Genetic: Blood sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
genes responsible for isolated CDH
Time Frame: One year
One year

Secondary Outcome Measures

Outcome Measure
Time Frame
prevalence of new identified genes in a cohort of CDH
Time Frame: One year
One year

Collaborators and Investigators

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

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Study Director: Judith Melki, MD-PHD, Institut National de la Santé Et de la Recherche Médicale, France

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

June 1, 2014

Primary Completion (ACTUAL)

February 1, 2016

Study Completion (ACTUAL)

May 1, 2016

Study Registration Dates

First Submitted

June 25, 2014

First Submitted That Met QC Criteria

June 25, 2014

First Posted (ESTIMATE)

June 26, 2014

Study Record Updates

Last Update Posted (ESTIMATE)

June 24, 2016

Last Update Submitted That Met QC Criteria

June 23, 2016

Last Verified

June 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CRC12074

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.

Clinical Trials on Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal Outcome

  • Sanford Health
    National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators
    Recruiting
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)
    Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions
    United States, Australia

Clinical Trials on Blood sample

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Serbia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe