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Hirschsprung Disease Genetic Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Sponsor:
Information provided by (Responsible Party):
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:
NCT00478712
First received: May 24, 2007
Last updated: October 28, 2014
Last verified: August 2013
  Purpose

Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.


Condition
Hirschsprung Disease

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Hirschsprung Disease

Resource links provided by NLM:


Further study details as provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):

Primary Outcome Measures:
  • Discovery of new genes and gene variants associated with Hirschsprung disease [ Time Frame: throughout study ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes [ Time Frame: throughout study ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Study volunteers are asked to provide blood or cheek swab/saliva samples. DNA is extracted from the samples for use in the study.


Estimated Enrollment: 3000
Study Start Date: January 2001
Estimated Primary Completion Date: March 2020 (Final data collection date for primary outcome measure)
Detailed Description:

Dr. Aravinda Chakravarti's laboratory at Johns Hopkins University has been investigating the genetics of Hirschsprung disease (HSCR) for more than twenty years. The purpose of our study is to continue the search for genes involved in Hirschsprung disease and to further characterize the known genes and the interactions between them. Our study will hopefully lead to a better understanding of the genetics of HSCR and, further down the road, improved diagnosis, treatment, and genetic counseling.

We ask study volunteers to:

  1. complete a medical/family history questionnaire
  2. provide access to some medical records
  3. submit blood samples from the individual(s) affected with Hirschsprung disease and his/her parents (if available)

If you are interested, a kit containing all the materials necessary to participate can be sent to you. There will be no cost to you.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

The study population includes individuals with Hirschsprung disease and their family members.

Criteria

Inclusion Criteria:

1. individuals with Hirschsprung disease and their first degree relatives (any segment length of disease, with or without other congenital anomalies or health problems, single or multiple affected individuals in family)

Exclusion Criteria:

  1. unable or unwilling to provide sample for genetic studies
  2. individual, parent, or guardian unable to comprehend and provide informed consent
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00478712

Contacts
Contact: Courtney Berrios, ScM 410-502-7541 hirschsprung@jhmi.edu
Contact: Aravinda Chakravarti, PhD 410-502-7525 hirschsprung@jhmi.edu

Locations
United States, Maryland
Institute of Genetic Medicine Recruiting
Baltimore, Maryland, United States, 21205
Sponsors and Collaborators
Investigators
Principal Investigator: Aravinda Chakravarti, PhD Johns Hopkins University
  More Information

Additional Information:
Publications:
Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT00478712     History of Changes
Other Study ID Numbers: R01HD28088
Study First Received: May 24, 2007
Last Updated: October 28, 2014
Health Authority: United States: Federal Government

Keywords provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):
Hirschsprung

Additional relevant MeSH terms:
Hirschsprung Disease
Colonic Diseases
Congenital Abnormalities
Digestive System Abnormalities
Digestive System Diseases
Gastrointestinal Diseases
Intestinal Diseases
Megacolon

ClinicalTrials.gov processed this record on November 23, 2014