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Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia

NCT02175264 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 73

Last updated 2025-11-20

No results posted yet for this study

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.

Conditions

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

Interventions

GENETIC

Blood sample

Sponsors & Collaborators

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

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

Eligibility

Min Age
3 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-06-30
Primary Completion
2016-02-29
Completion
2016-05-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02175264 on ClinicalTrials.gov