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Hirschsprung Disease Genetic Study

Genetic Analysis of Hirschsprung Disease

Who can join

1 Week – 100 Years · All sexes · Healthy volunteers welcome

Inclusion Criteria:

\- 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:

* Unable or unwilling to provide sample for genetic studies
* Individual, parent, or guardian unable to comprehend and provide informed consent

About the study

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.

What is being tested

• Identification of genetic causes of Hirschsprung Disease (other)

Sponsor: NYU Langone Health · Participants: 3,000 · Started: 2001-01

Contact the study team

• Jenna Pucel, MS, CGC · Phone: 212-263-8069

Official record on ClinicalTrials.gov — NCT00478712

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.