NCT02175264

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
73

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jun 2014

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2014

Completed
24 days until next milestone

First Submitted

Initial submission to the registry

June 25, 2014

Completed
1 day until next milestone

First Posted

Study publicly available on registry

June 26, 2014

Completed
1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2016

Completed
3 months until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2016

Completed
Last Updated

November 20, 2025

Status Verified

September 1, 2025

Enrollment Period

1.7 years

First QC Date

June 25, 2014

Last Update Submit

November 17, 2025

Conditions

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

Keywords

Isolated non syndromic CDH

Outcome Measures

Primary Outcomes (1)

  • genes responsible for isolated CDH

    One year

Secondary Outcomes (1)

  • prevalence of new identified genes in a cohort of CDH

    One year

Study Arms (1)

Patients and Families with isolated non syndromic CDH cases

Genetic: Blood sample

Interventions

Blood sampleGENETIC
Patients and Families with isolated non syndromic CDH cases

Eligibility Criteria

Age3 Months+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hopital béclère

Clamart, 92141, France

Location

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Judith Melki, MD-PHD

    Institut National de la Santé Et de la Recherche Médicale, France

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 25, 2014

First Posted

June 26, 2014

Study Start

June 1, 2014

Primary Completion

February 1, 2016

Study Completion

May 1, 2016

Last Updated

November 20, 2025

Record last verified: 2025-09

Locations

FR(1)