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
ClinicalTrials.gov Identifier:
First received: May 24, 2007
Last updated: October 22, 2015
Last verified: October 2015

May 24, 2007
October 22, 2015
January 2001
March 2025   (Final data collection date for primary outcome measure)
Discovery of new genes and gene variants associated with Hirschsprung disease [ Time Frame: throughout study ]
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Complete list of historical versions of study NCT00478712 on ClinicalTrials.gov Archive Site
Correlation of genetic variants with disease risk, presentation, complications and clinical outcomes [ Time Frame: throughout study ]
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Hirschsprung Disease Genetic Study
Genetic Analysis of Hirschsprung Disease
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.

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.

Observational Model: Family-Based
Time Perspective: Prospective
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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.
Non-Probability Sample
The study population includes individuals with Hirschsprung disease and their family members.
Hirschsprung Disease
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
March 2025
March 2025   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
up to 100 Years   (Child, Adult, Senior)
Contact: Courtney Berrios, ScM 410-502-7541 hirschsprung@jhmi.edu
Contact: Aravinda Chakravarti, PhD 410-502-7525 hirschsprung@jhmi.edu
United States
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Johns Hopkins University
Johns Hopkins University
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Principal Investigator: Aravinda Chakravarti, PhD Johns Hopkins University
Johns Hopkins University
October 2015

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP