Congenital Diaphragmatic HerniaNCT01098929
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
An observational study of Congenital Diaphragmatic Hernia, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly. When an opening is present in the diaphragm, organs that are normally found in the abdomen can move up into the chest cavity. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Congenital Diaphragmatic Hernia
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2002to Jul 2017
- 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: Children/infants with a congenital diaphragmatic hernia Women who are currently pregnant with a fetus diagnosed with congenital diaphragmatic hernia Individuals with a family history of congenital diaphragmatic hernia
Who may be able to join
- All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of CDH
Who cannot join
- Individuals with no personal or family history of a CDH
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Children's Hospital Boston
Boston, Massachusetts, 02215
Jessica Kim, BS, 617-355-2555, jessica.kim2@childrens.harvard.edu
Jay Wilson, MD
About this study
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly. When an opening is present in the diaphragm, organs that are normally found in the abdomen can move up into the chest cavity. The primary objective of this study is to generate information about the hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our long-term goal is to identify ways to treat babies in utero with effective but safe drugs to speed up lung development before birth.
Read the detailed description
This study uses a combination of clinical, molecular biological, and developmental strategies to better understand the genetic basis of congenital diaphragmatic hernia. Ongoing projects at Massachusetts General Hospital include identification of novel genes affecting diaphragm and lung development in a) mouse models using laser capture, microdissection, expression arrays, and statistical and bioinformatics analysis and b) human kindreds with multiple affected family members using linkage analysis and exome sequencing.
Research projects based at Children's Hospital Boston include a) continued recruitment of a population of patients with congenital diaphragmatic hernia who are carefully phenotyped for entry into an extensive database, b) collection of biological samples belonging to the phenotyped cohort of patients, c) next-generation sequencing on candidate genes and d) molecular cytogenetic studies such as comparative genomic hybridization and subtelomeric fluorescence in situ hybridization.
Over 500 patients with congenital diaphragmatic hernia and their families have been recruited to date and efforts are ongoing to double this number. The investigators hope that the information gained through identifying the genes that contribute to congenital diaphragmatic hernia will provide the foundation for future efforts to develop effective interventions for the treatment of this disease.
- Conditions
- Congenital Diaphragmatic Hernia
- Keywords
- genes, genetic, chromosome, chromosome microarray
- Medical subject headings
- Hernias, Diaphragmatic, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Congenital Diaphragmatic Hernia (CDH) | Individuals affected with congenital diaphragmatic hernia (CDH) | |
| Unaffected | Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH) |
What is being measured
The primary outcome is the main question the study is designed to answer.
identify genes associated with CDH
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 posted5 Apr 2010 (estimated)
- Study startJul 2002
- Primary completionJul 2017 (estimated)
- Study completionJul 2017 (estimated)
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 Massachusetts General HospitalThe 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
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital
- Responsible party
- Principal investigator, Patricia Donahoe, MD, Massachusetts General Hospital
- Investigators
- Patricia Donahoe, MD, Principal investigator, Massachusetts General HospitalJay Wilson, MD, Principal investigator, Boston Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01098929
- Sponsor's protocol ID
- 05-07-105R
- Status last verified
- Dec 2015
- First submitted
- 31 Mar 2010
- Last updated
- 17 Dec 2015
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 17 Dec 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
- ClinicalTrials.gov ID
- NCT01098929
- Acronym / sponsor ID
- 05-07-105R
- Conditions
- Congenital Diaphragmatic Hernia
- Keywords
- genes, genetic, chromosome, chromosome microarray
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Boston Children's Hospital
- Study start
- Jul 2002
- Primary completion
- Jul 2017 (estimated)
- Study completion
- Jul 2017 (estimated)
- First posted
- 5 Apr 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.
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly. When an opening is present in the diaphragm, organs that are normally found in the abdomen can move up into the chest cavity. The primary objective of this study is to generate information about the hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our long-term goal is to identify ways to treat babies in utero with effective but safe drugs to speed up lung development before birth.
Detailed description
This study uses a combination of clinical, molecular biological, and developmental strategies to better understand the genetic basis of congenital diaphragmatic hernia. Ongoing projects at Massachusetts General Hospital include identification of novel genes affecting diaphragm and lung development in a) mouse models using laser capture, microdissection, expression arrays, and statistical and bioinformatics analysis and b) human kindreds with multiple affected family members using linkage analysis and exome sequencing.
Research projects based at Children's Hospital Boston include a) continued recruitment of a population of patients with congenital diaphragmatic hernia who are carefully phenotyped for entry into an extensive database, b) collection of biological samples belonging to the phenotyped cohort of patients, c) next-generation sequencing on candidate genes and d) molecular cytogenetic studies such as comparative genomic hybridization and subtelomeric fluorescence in situ hybridization.
Over 500 patients with congenital diaphragmatic hernia and their families have been recruited to date and efforts are ongoing to double this number. The investigators hope that the information gained through identifying the genes that contribute to congenital diaphragmatic hernia will provide the foundation for future efforts to develop effective interventions for the treatment of this disease.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Congenital Diaphragmatic Hernia (CDH) | – | –Individuals affected with congenital diaphragmatic hernia (CDH) |
| Unaffected | – | –Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children/infants with a congenital diaphragmatic hernia Women who are currently pregnant with a fetus diagnosed with congenital diaphragmatic hernia Individuals with a family history of congenital diaphragmatic hernia
Key inclusion criteria (1 listed)
- All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of CDH
Key exclusion criteria (1 listed)
- Individuals with no personal or family history of a CDH
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
identify genes associated with CDH
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2015.
Related trials for Congenital Diaphragmatic Hernia
Enrolling by invitationObservational study
North American Fetal Therapy Network Prospective Registry for Long-term Outcome Following Fetoscopic Endoluminal Tracheal Occlusion in Severe Left and Right Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia
Active, not recruiting
Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia, Pulmonary Hypoplasia
Active, not recruitingPhase 2
Effect of a Parenteral Emulsion With Omega3 on Neonates With PPHN and CDH
Pulmonary Hypertension of Newborn, Diaphragm Defect
RecruitingPhase 4
De-implementing Inhaled Nitric Oxide for Congenital Diaphragmatic Hernia
Congenital Diaphragmatic Hernia
Active, not recruiting
Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Severe Left Diaphragmatic Hernia (CDH)
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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.
Patricia Donahoe, MD principal investigator
Massachusetts General Hospital
Jay Wilson, MD principal investigator
Boston Children's Hospital
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 Congenital Diaphragmatic Hernia, run by Massachusetts General Hospital at 1 site 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: status not confirmed, as of the sponsor's last update on 17 Dec 2015. 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 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Jessica Kim, BS (617-355-2555, jessica.kim2@childrens.harvard.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
identify genes associated with CDH (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 17 Dec 2015.