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Scientists hunt for hidden genes behind rare birth defect

NCT ID NCT02175264

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked at the DNA of 73 children with a rare birth defect called isolated congenital diaphragmatic hernia (CDH), where a hole in the diaphragm allows organs to move into the chest. Researchers wanted to find new genetic changes that might cause the condition. They used advanced gene sequencing to search for mutations in families with one affected child. The goal was to identify genes responsible for CDH and understand how often these genes appear in other patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

73 people

The number who actually took part.

Start date

Jun 2014

Finished

May 2016

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

3 months and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

congenital diaphragmatic hernia

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Isolated non syndromic left CDH with postero lateral diaphragmatic defect with good perinatal outcome

Contacts and locations

Locations

  • Hopital béclère

    Clamart, 92141, France