Hirschsprung Disease Genetic Study
NCT00478712 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 3000
Last updated 2025-07-30
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.
Conditions
- Hirschsprung Disease
Interventions
- OTHER
-
Identification of genetic causes of Hirschsprung Disease
Blood, saliva, or DNA samples are requested from all study participants. The blood or saliva samples are used to isolate DNA in all participants. Blood samples are also used to establish cell lines in some participants.
Sponsors & Collaborators
-
New York University
collaborator OTHER - lead OTHER
Principal Investigators
-
Aravinda Chakravarti, PhD · NYU Langone Health
Eligibility
- Min Age
- 1 Week
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2001-01-31
- Primary Completion
- 2028-12-31
- Completion
- 2028-12-31
Countries
- United States
Study Locations
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