Congenital Diaphragmatic HerniaNCT01243229
Genetic Analysis of Congenital Diaphragmatic Disorders
An observational study of Congenital Diaphragmatic Hernia and Congenital Diaphragmatic Eventration, run by University of Utah at 2 sites in United States.
Trial summary
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: 1. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Congenital Diaphragmatic Hernia, Congenital Diaphragmatic Eventration, Congenital Hiatal Hernia
- How many people
- 305 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2010to 1 Jun 2021
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Newborns, children and adults affected by congenital disorders of the diaphragm, such as congenital diaphragmatic hernia, eventration and hiatal hernia.
Who may be able to join
- Diagnosed with a congenital diaphragmatic disorder
Who cannot join
- none
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Primary Children's Medical Center
Salt Lake City, Utah, 84112
University Hospital
Salt Lake City, Utah, 84132
About this study
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia.
Specifically, the investigators plan to:
- Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample).
- Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD.
- Isolate and characterize genes involved in the pathogenesis of CDD.
- Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations.
- Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.
- Conditions
- Congenital Diaphragmatic Hernia, Congenital Diaphragmatic Eventration, Congenital Hiatal Hernia, Congenital Diaphragmatic Disorders
- Medical subject headings
- Hernias, Diaphragmatic, Congenital
What is being measured
The primary outcome is the main question the study is designed to answer.
Genes implicated in CDD can be identified by linkage analysis
Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis
Measured: 5 years
Secondary outcomes (1)
Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH.
Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations by localizing the gene(s) for CDH to specific chromosomal segments using linkage analysis in familial cases. In sporadic cases, characterize the role of somatic mutations in CDDs by using a candidate gene approach, and comparative genomic hybridization (CGH) arrays.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2010 (estimated)
- Study startOct 2010
- Primary completion28 Feb 2018
- Study completion1 Jun 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Diaphragmatic HerniaStudies of the same condition, open and under way.
- More trials run by University of UtahThe 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
- Other
- Time perspective
- Other
- Enrolment
- 305 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Luca Brunelli, University of Utah
- Investigators
- Luca Brunelli, MD, Principal investigator, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01243229
- Sponsor's protocol ID
- 35848
- Status last verified
- Mar 2023
- First submitted
- 16 Nov 2010
- Last updated
- 3 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Analysis of Congenital Diaphragmatic Disorders
- ClinicalTrials.gov ID
- NCT01243229
- Acronym / sponsor ID
- 35848
- Conditions
- Congenital Diaphragmatic Hernia, Congenital Diaphragmatic Eventration, Congenital Hiatal Hernia, Congenital Diaphragmatic Disorders
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 305 participants (actual)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Study start
- Oct 2010
- Primary completion
- 28 Feb 2018 (actual)
- Study completion
- 1 Jun 2021 (actual)
- First posted
- 18 Nov 2010 (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.
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia.
Specifically, the investigators plan to:
- Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample).
- Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD.
- Isolate and characterize genes involved in the pathogenesis of CDD.
- Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations.
- Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Newborns, children and adults affected by congenital disorders of the diaphragm, such as congenital diaphragmatic hernia, eventration and hiatal hernia.
Key inclusion criteria (1 listed)
- Diagnosed with a congenital diaphragmatic disorder
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genes implicated in CDD can be identified by linkage analysis
Time frame: 5 years
Using the Utah Population Database, genes implicated in CDD can be identified by linkage analysis
1 secondary outcome
Develop molecular markers that will facilitate accurate diagnosis of CDD and CDH.
Time frame: 5 years
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 3 Apr 2023.
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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.
Luca Brunelli, MD principal investigator
University of Utah
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Diaphragmatic Hernia and Congenital Diaphragmatic Eventration, run by University of Utah at 2 sites in United States.
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 1 inclusion and 1 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 3 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. 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 implicated in CDD can be identified by linkage analysis (time frame: 5 years). 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 3 Apr 2023.