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Recruiting NCT00478712

NCT00478712 Hirschsprung Disease Genetic Study

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Clinical Trial Summary
NCT ID NCT00478712
Status Recruiting
Phase
Sponsor NYU Langone Health
Condition Hirschsprung Disease
Study Type OBSERVATIONAL
Enrollment 3,000 participants
Start Date 2001-01
Primary Completion 2028-12

Eligibility & Interventions

Sex All sexes
Min Age 1 Week
Max Age 100 Years
Study Type OBSERVATIONAL
Interventions
Identification of genetic causes of Hirschsprung Disease

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 3,000 participants in total. It began in 2001-01 with a primary completion date of 2028-12.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

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.

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

Contact & Investigator

Central Contact

Jenna Pucel, MS, CGC

✉ jenna.pucel@nyulangone.org

📞 212-263-8069

Principal Investigator

Aravinda Chakravarti, PhD

PRINCIPAL INVESTIGATOR

NYU Langone Health

Frequently Asked Questions

Who can join the NCT00478712 clinical trial?

This trial is open to participants of all sexes, aged 1 Week or older, up to 100 Years, studying Hirschsprung Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT00478712 currently recruiting?

Yes, NCT00478712 is actively recruiting participants. Contact the research team at jenna.pucel@nyulangone.org for enrollment information.

Where is the NCT00478712 trial being conducted?

This trial is being conducted at New York, United States.

Who is sponsoring the NCT00478712 clinical trial?

NCT00478712 is sponsored by NYU Langone Health. The principal investigator is Aravinda Chakravarti, PhD at NYU Langone Health. The trial plans to enroll 3,000 participants.

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ClinicalMetric — Independent clinical trial intelligence platform. Not affiliated with NIH, ClinicalTrials.gov, the U.S. FDA, or any pharmaceutical company, hospital, or clinical research organization. Trial data is sourced from ClinicalTrials.gov for informational purposes only and does not constitute medical advice. Do not make any treatment, enrollment, or health decisions based solely on information found here — always consult a qualified healthcare professional. Full Disclaimer  ·  Last Reviewed: April 2026  ·  Data Methodology