Recruiting

Genetic Study

Sponsor:

NYU Langone Health

Code:

NCT00478712

Conditions

Hirschsprung Disease

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Interventions

Identification of genetic causes of Hirschsprung Disease

Study Details

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.

Conditions

Hirschsprung Disease

Study ID

NCT00478712

Start date

Jan, 2001

Status verified date

Jun, 2026

Completion date

Dec, 2028

Anticipated

Primary completion date

Dec, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

3000 participants

Anticipated

Interventions and Outcome Measures

Arms

Families with Hirschsprung Disease

Individuals with Hirschsprung disease and their affected and unaffected relatives.

Interventions

Identification of genetic causes of Hirschsprung Disease

Blood, saliva, or DNA samples are requested from all study participants. The blood or saliva samples are used to isolate DNA in all participants. Blood samples are also used to establish cell lines in some participants.

Primary outcome measure

  • Discovery and characterization of common genetic variation associated with Hirschsprung disease [ Time Frame: DNA is isolated up to 1 year after enrollment ]
  • Discovery and characterization of copy number variants associated with Hirschsprung disease [ Time Frame: DNA is isolated up to 1 year after enrollment ]
  • Discovery and characterization of rare genetic variation associated with Hirschsprung disease [ Time Frame: DNA is isolated up to 1 year after enrollment ]

Central Contacts and Locations

Central contacts

Jenna Pucel, MS, CGC

212-263-8069jenna.pucel@nyulangone.org

Locations

New York University School of Medicine

Recruiting

New York, New York, United States, 10016

Contacts

Monica Erazo, MS

212-263-8069Monica.Erazo@nyulangone.org

Principal Investigator:

Aravinda Chakravarti, PhD

More Information

Sponsor

NYU Langone Health

Last update posted

Jun 4, 2026

Last verified

Jun, 2026

Keywords

  • Hirschsprung

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by NYU Langone Health on 2026-06-04.