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Hirschsprung Disease Genetic Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2015 by Johns Hopkins University
Information provided by (Responsible Party):
Johns Hopkins University Identifier:
First received: May 24, 2007
Last updated: October 22, 2015
Last verified: October 2015
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.

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 Johns Hopkins University:

Primary Outcome Measures:
  • Discovery of new genes and gene variants associated with Hirschsprung disease [ Time Frame: throughout study ]

Secondary Outcome Measures:
  • Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes [ Time Frame: throughout study ]

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 Study Completion Date: March 2025
Estimated Primary Completion Date: March 2025 (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.


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The study population includes individuals with Hirschsprung disease and their family members.

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 identifier: NCT00478712

Contact: Courtney Berrios, ScM 410-502-7541
Contact: Aravinda Chakravarti, PhD 410-502-7525

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

Additional Information:

Responsible Party: Johns Hopkins University Identifier: NCT00478712     History of Changes
Other Study ID Numbers: R01HD028088 
Study First Received: May 24, 2007
Last Updated: October 22, 2015

Keywords provided by Johns Hopkins University:

Additional relevant MeSH terms:
Hirschsprung Disease
Digestive System Abnormalities
Digestive System Diseases
Colonic Diseases
Intestinal Diseases
Gastrointestinal Diseases
Congenital Abnormalities processed this record on February 23, 2017