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.
Age range
1 Week – 100 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Discovery and characterization of common genetic variation associated with Hirschsprung disease
Timeframe: DNA is isolated up to 1 year after enrollment
Discovery and characterization of copy number variants associated with Hirschsprung disease
Timeframe: DNA is isolated up to 1 year after enrollment
Discovery and characterization of rare genetic variation associated with Hirschsprung disease
Timeframe: DNA is isolated up to 1 year after enrollment