Hirschsprung Disease Genetic Study

Part of paid clinical trials in New York, New York.

Sponsor
NYU Langone Health
Study ID
NCT00478712
Status
Recruiting
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Conditions

  • Hirschsprung Disease

Eligibility Criteria

Sex
ALL
Age
1 Week - 100 Years
Healthy Volunteers
Accepted

Interventions

  • Identification of genetic causes of Hirschsprung Disease — OTHER
    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.

Study Details

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.

Key Dates

Start date
Jan 31, 2001
Status verified
Jun 2026
Primary completion
Dec 31, 2028
Completion
Dec 31, 2028

Study Design

Enrollment
3,000 participants (estimated)

Arms

  • Arm: Families with Hirschsprung Disease
    Individuals with Hirschsprung disease and their affected and unaffected relatives.

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 ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
New York University School of MedicineNew YorkNew York10016
Monica Erazo, MS
[email protected]
212-263-8069
Aravinda Chakravarti, PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in New York, NY

By research site
New York University School of Medicine· New York, NY

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