Trial Parameters
Condition Hirschsprung Disease
Sponsor NYU Langone Health
Study Type OBSERVATIONAL
Phase N/A
Enrollment 3,000
Sex ALL
Min Age 1 Week
Max Age 100 Years
Start Date 2001-01
Completion 2028-12
Interventions
Identification of genetic causes of Hirschsprung Disease
Brief Summary
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.
Eligibility Criteria
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