Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia (CDH)
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| First Received Date ICMJE | March 31, 2010 | ||||||||
| Last Updated Date | August 13, 2012 | ||||||||
| Start Date ICMJE | July 2002 | ||||||||
| Estimated Primary Completion Date | July 2015 (final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE |
identify genes associated w/CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ] We have ongoing studies for additional 5 years, we hope to identify more genes associated w/CDH in hopes of improving outcomes for individuals with this condition. |
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| Original Primary Outcome Measures ICMJE |
identify genes associated w/CDH [ Time Frame: 5 years ] [ Designated as safety issue: No ] | ||||||||
| Change History | Complete list of historical versions of study NCT01098929 on ClinicalTrials.gov Archive Site | ||||||||
| Current Secondary Outcome Measures ICMJE | Not Provided | ||||||||
| Original Secondary Outcome Measures ICMJE | Not Provided | ||||||||
| Current Other Outcome Measures ICMJE | Not Provided | ||||||||
| Original Other Outcome Measures ICMJE | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia | ||||||||
| Official Title ICMJE | Gene Mutation and Rescue in Human Congenital Diaphragmatic Hernia | ||||||||
| Brief Summary | The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal, is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth. |
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| Detailed Description | The purpose of this study is to generate information about the hereditary basis of Congenital Diaphragmatic Hernia (CDH) and abnormal lung development. Our long-term goal is to identify ways to pre-treat babies in utero with effective but safe drugs to speed up lung development before birth. Congenital Diaphragmatic Hernia (CDH) is a frequent and often fatal developmental condition that appears to be caused by diverse, including genetic, factors. This project uses a combination of clinical, molecular biological, and developmental strategies to identify genetic causes of this anomaly. Ongoing projects at Massachusetts General Hospital include identification of novel genes contributing to lung and diaphragm development in: a) rodent models (using laser capture, microdissection, expression arrays, and statistical and bioinformatics analyses); and b) human kindreds having multiple family members affected with CDH (using linkage analysis and exome sequencing approaches). In the portion of the project based at Children's Hospital Boston, ongoing projects include: a) continued recruitment of a cohort of patients with CDH who are carefully phenotyped for entry into a structurally sound database; b) collection and storage of biological materials 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 FISH. Over 350 patients with CDH, and their parents, have been recruited to date. Efforts are ongoing to triple this number. The knowledge generated by uncovering genes responsible for CDH will provide the foundation for future efforts to develop effective interventions for this potentially devastating syndrome. |
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| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | Time Perspective: Prospective | ||||||||
| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description: blood, urine, skin biopsy, paraffin blocks |
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| Sampling Method | Non-Probability Sample | ||||||||
| Study Population | Any individuals with Congenital Diaphragmatic Hernia (CDH) |
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| Condition ICMJE | Congenital Diaphragmatic Hernia | ||||||||
| Intervention ICMJE | Not Provided | ||||||||
| Study Group/Cohort (s) | Individuals with CDH
Any individual with Congenital Diaphragmatic Hernia (CDH) |
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| Publications * | Not Provided | ||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Estimated Enrollment ICMJE | 1000 | ||||||||
| Estimated Completion Date | July 2015 | ||||||||
| Estimated Primary Completion Date | July 2015 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE | Inclusion Criteria:
Exclusion Criteria:
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| Gender | Both | ||||||||
| Ages | Not Provided | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts ICMJE |
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| Location Countries ICMJE | United States | ||||||||
| Administrative Information | |||||||||
| NCT Number ICMJE | NCT01098929 | ||||||||
| Other Study ID Numbers ICMJE | 05-07-105R | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| Responsible Party | Patricia Donahoe, MD, Massachusetts General Hospital | ||||||||
| Study Sponsor ICMJE | Massachusetts General Hospital | ||||||||
| Collaborators ICMJE | Children's Hospital Boston | ||||||||
| Investigators ICMJE |
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| Information Provided By | Massachusetts General Hospital | ||||||||
| Verification Date | August 2012 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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