RecruitingNCT00478712

Hirschsprung Disease Genetic Study

Genetic Analysis of Hirschsprung Disease


Sponsor

NYU Langone Health

Enrollment

3,000 participants

Start Date

Jan 1, 2001

Study Type

OBSERVATIONAL

Conditions

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

Min Age: 1 WeekMax Age: 100 Years

Inclusion Criteria1

  • \- 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 Criteria2

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

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Interventions

OTHERIdentification 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.


Locations(1)

New York University School of Medicine

New York, New York, United States

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NCT00478712


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