Actively Recruiting

Age: 1Week - 100Years
All Genders
Healthy Volunteers
NCT00478712

Hirschsprung Disease Genetic Study

Led by NYU Langone Health · Updated on 2025-07-30

3000

Participants Needed

1

Research Sites

1456 weeks

Total Duration

On this page

Sponsors

N

NYU Langone Health

Lead Sponsor

N

New York University

Collaborating Sponsor

AI-Summary

What this Trial 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.

CONDITIONS

Official Title

Hirschsprung Disease Genetic Study

Who Can Participate

Age: 1Week - 100Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • 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
Not Eligible

You will not qualify if you...

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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

New York University School of Medicine

New York, New York, United States, 10016

Actively Recruiting

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Research Team

J

Jenna Pucel, MS, CGC

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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