MedDataX Logo

Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia

NCT ID: NCT01098929

Last Updated: 2015-12-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2002-07-31

Study Completion Date

2017-07-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Congenital Diaphragmatic Hernia

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

genes genetic chromosome chromosome microarray

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Congenital Diaphragmatic Hernia (CDH)

Individuals affected with congenital diaphragmatic hernia (CDH)

No interventions assigned to this group

Unaffected

Healthy family members of individuals affected with congenital diaphragmatic hernia (CDH)

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Boston Children's Hospital

OTHER

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Patricia Donahoe, MD

Principal Investigator and Program Director, Pediatric Surgical Research Laboratories

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Patricia Donahoe, MD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Jay Wilson, MD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Children's Hospital Boston

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Jessica Kim, BS

Role: CONTACT

Phone: 617-355-2555

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Jessica Kim, BS

Role: primary

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

05-07-105R

Identifier Type: -

Identifier Source: org_study_id