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: February 5, 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 and has played an important role in identifying several genes involved. However, there is more work to be done in clarifying the genetic basis of HSCR. The aims of the study are to continue the search for genes involved in Hirschsprung disease, to further characterize known genes, and improve our understanding of how genes interact to lead to the disorder. Our expectation is that the study will lead to better understanding of the genetics of Hirschsprung disease and, further down the road, improved diagnosis, treatment, and genetic counseling.

Study volunteers are individuals with Hirschsprung disease and their family members. Study volunteers are asked to complete a medical/family history questionnaire and to submit blood samples (or cheek swab/saliva samples) from the individual(s) affected with Hirschsprung disease and, if available, his/her parents. The researchers may also ask for access to some medical records. Interested participants will receive a study kit in the mail, which includes the questionnaire, consent forms, and blood collection and shipping supplies. The study will reimburse participants for costs associated with the blood draw.

In the laboratory, DNA is extracted from the samples and a variety of methods are used to study individual DNA sequences. Individual results are not disclosed but newsletters are distributed with updates about the study's findings. Please contact the study coordinator, Courtney Berrios, for more information.

  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: February 5, 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
Digestive System Abnormalities
Digestive System Diseases
Megacolon
Colonic Diseases
Intestinal Diseases
Gastrointestinal Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on August 28, 2014