Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal OutcomeHCD GENENCT02175264
Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia
An observational study of Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal Outcome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 months and older
- Conditions the study is for
- Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal Outcome
- What is being tested?
- Blood sample
- How many people
- 73 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2014to May 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Babies with CDH who delivered if centers included in the "Centre For Rare Disease for Congenital Diaphragmatic Hernia"
Who may be able to join
- Families with one (or more) non syndromic CDH child
- Signed consent form
Who cannot join
- Syndromic CDH or associated with a known karyotype anomaly
- No signed consent form
- Not affiliated to French social security
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Being tested
- Blood sample
- Keywords
- Isolated non syndromic CDH
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleGenetic
| Study group | Role | What they receive |
|---|---|---|
| Patients and Families with isolated non syndromic CDH cases | Not described Receives: Genetic: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
genes responsible for isolated CDH
Measured: One year
Secondary outcomes (1)
prevalence of new identified genes in a cohort of CDH
Measured: One year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2014 (estimated)
- Study startJun 2014
- Primary completionFeb 2016
- Study completionMay 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal OutcomeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Judith Melki, MD-PHD, Study director, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02175264
- Sponsor's protocol ID
- CRC12074
- Acronym
- HCD GENE
- Status last verified
- Sep 2025
- First submitted
- 25 Jun 2014
- Last updated
- 20 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Basis of Non Syndromic Congenital Diaphragmatic Hernia
- ClinicalTrials.gov ID
- NCT02175264
- Acronym / sponsor ID
- HCD GENE / CRC12074
- Keywords
- Isolated non syndromic CDH
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 73 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- Jun 2014
- Primary completion
- Feb 2016 (actual)
- Study completion
- May 2016 (actual)
- First posted
- 26 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients and Families with isolated non syndromic CDH cases | – | Genetic: Blood sample |
Who may qualify
- Ages
- 3 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Babies with CDH who delivered if centers included in the "Centre For Rare Disease for Congenital Diaphragmatic Hernia"
Key inclusion criteria (2 listed)
- Families with one (or more) non syndromic CDH child
- Signed consent form
Key exclusion criteria (3 listed)
- Syndromic CDH or associated with a known karyotype anomaly
- No signed consent form
- Not affiliated to French social security
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample | Genetic | Patients and Families with isolated non syndromic CDH cases |
Primary outcome
genes responsible for isolated CDH
Time frame: One year
1 secondary outcome
prevalence of new identified genes in a cohort of CDH
Time frame: One year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Nov 2025.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Judith Melki, MD-PHD study director
Institut National de la Santé Et de la Recherche Médicale, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Isolated Non Syndromic Left CDH With Postero Lateral Diaphragmatic Defect With Good Perinatal Outcome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
genes responsible for isolated CDH (time frame: One year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Nov 2025.