Hirschsprung Disease Genetic Study
This study is looking into the genetic causes of Hirschsprung disease (a condition where nerve cells are missing in parts of the intestine). Researchers want to understand the different genes that play a role in this condition. You can join if you have Hirschsprung disease, or if you are a first-degree relative (like a parent, sibling, or child) of someone with the disease. To participate, you would provide a blood, saliva, or DNA sample. The study aims to find and describe common, rare, and copy number variations in genes linked to Hirschsprung disease. The current recruitment status is unclear.
- Study design
- This is an observational study planning to enroll up to 3000 participants. It is not a treatment study but rather focuses on understanding the genetics of Hirschsprung disease.
- What's involved
- You would provide a blood, saliva, or DNA sample for genetic studies. Blood samples may also be used to establish cell lines in some participants.
- Compensation
- Not stated in the trial record.
- Follow-up
- Genetic analysis will be performed on your DNA sample up to 1 year after enrollment.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Hirschsprung Disease Genetic Study
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Aravinda Chakravarti, PhD · PRINCIPAL_INVESTIGATOR · NYU Langone Health
Who to contact
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Do you actually qualify for this trial?
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Exclusion
What this trial measures
- Discovery and characterization of common genetic variation associated with Hirschsprung diseaseDNA is isolated up to 1 year after enrollment
Genome-wide assays of common genetic variation will be assessed using single nucleotide polymorphism (SNP) arrays
- Discovery and characterization of copy number variants associated with Hirschsprung diseaseDNA is isolated up to 1 year after enrollment
Copy number variation will be detected using next generation sequencing data and high resolution microarrays that allow for detection of copy number variants across the genome
- Discovery and characterization of rare genetic variation associated with Hirschsprung diseaseDNA is isolated up to 1 year after enrollment
Exome sequencing will be used to detect rare variation across all genes in the genome