Hirschsprung Disease Genetic Study

Launched by NYU LANGONE HEALTH · May 24, 2007

Keywords

ClinConnect Summary

**Summary of the Hirschsprung Disease Genetic Study**

This clinical trial is focused on understanding Hirschsprung disease, a condition that affects the intestines due to a lack of nerve cells. The study aims to explore the complex genetic factors that contribute to this disease, which can vary in severity among individuals. Researchers are looking for participants who have Hirschsprung disease and their close family members. This includes anyone from ages 7 to over 100, regardless of whether they have other health issues or if multiple family members are affected.

If you or a family member has Hirschsprung disease, you may be eligible to participate in this study. Participants will need to provide a sample for genetic testing, which helps researchers learn more about the disease. It’s important that participants, or their guardians, can understand and agree to take part in the study. By joining, you can contribute to valuable research that may help improve the understanding of Hirschsprung disease and potentially lead to better treatments in the future.

Gender

ALL

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