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Hirschsprung Disease Genetic Study

NYU Langone Health · with New York University · NCT00478712

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 0 mo–100 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
3000
US sites recruiting
1
Study start
January 2001
Record last updated
June 4, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: Identification of genetic causes of Hirschsprung Disease

Conditions: Hirschsprung Disease

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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

Recruiting US locations

  • New York University School of Medicine

    New York, NY 10016

    Site contact: Monica Erazo, MS · 212-263-8069 · Monica.Erazo@nyulangone.org

Study contacts (from the official record)

  • Jenna Pucel, MS, CGC · 212-263-8069 · jenna.pucel@nyulangone.org
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Hirschsprung Disease Genetic Study (NCT00478712) | Bored Studies