- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01098929
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Study Overview
Status
Conditions
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 Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Jessica Kim, BS
- Phone Number: 617-355-2555
- Email: jessica.kim2@childrens.harvard.edu
Study Locations
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Massachusetts
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Boston, Massachusetts, United States, 02215
- Recruiting
- Children's Hospital Boston
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Contact:
- Jessica Kim, BS
- Phone Number: 617-355-2555
- Email: jessica.kim2@childrens.harvard.edu
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Principal Investigator:
- Jay Wilson, MD
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
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
Description
Inclusion Criteria:
All individuals affected with a congenital diaphragmatic hernia (CDH), or with a family history of CDH
Exclusion Criteria:
Individuals with no personal or family history of a CDH
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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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 the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
identify genes associated with CDH
Time Frame: 5 years
|
5 years
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Patricia Donahoe, MD, Massachusetts General Hospital
- Principal Investigator: Jay Wilson, MD, Boston Children's Hospital
Study record dates
Study Major Dates
Study Start
Primary Completion (ANTICIPATED)
Study Completion (ANTICIPATED)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 05-07-105R
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Congenital Diaphragmatic Hernia
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Timothy CrombleholmeRecruitingCongenital Diaphragmatic HerniasUnited States
-
Martin-Luther-Universität Halle-WittenbergUnknownSevere Congenital Diaphragmatic HerniaGermany
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University of California, San FranciscoNo longer availableSevere Congenital Diaphragmatic HerniaUnited States
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University of UtahCompletedCongenital Diaphragmatic Hernia | Congenital Diaphragmatic Eventration | Congenital Hiatal Hernia | Congenital Diaphragmatic DisordersUnited States
-
University of Sao Paulo General HospitalMinistry of Health, BrazilUnknownCongenital Diaphragmatic Hernia | Congenital AbnormalityBrazil
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Connecticut Children's Medical CenterRecruitingCongenital Diaphragmatic HerniasUnited States
-
University Hospital, Strasbourg, FranceTerminatedCongenital Diaphragmatic HerniasFrance
-
University Hospital, LilleAPEHDia, a french CDH patient association; Rare Disease Foundation, FranceNot yet recruitingCongenital Diaphragmatic Hernia
-
University of California, DavisNot yet recruitingCongenital Diaphragmatic HerniaUnited States
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Universitaire Ziekenhuizen KU LeuvenRecruitingCongenital Diaphragmatic HerniaBelgium