Status:

UNKNOWN

Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease

Lead Sponsor:

Cedars-Sinai Medical Center

Collaborating Sponsors:

Karolinska University Hospital

Children's Hospital Los Angeles

Conditions:

Hirschsprung Disease

Enterocolitis

Eligibility:

All Genders

1-17 years

Brief Summary

To identify demographic, clinical, genetic, immunologic and/or microbial (i.e., fecal stream characterization) risk factors that influence the likelihood of development of the HAEC phenotype in childr...

Detailed Description

Emerging data suggests that the distinct phenotype of HAEC in children with HD may be the result of the complex interplay between host genetics, immune response and environmental triggers. Data sugges...

Eligibility Criteria

Inclusion

  • 1\. Males and females of all ages with a confirmed diagnosis of HD based on standardized histological criteria. Only Males and females ages 0 to 17 with a confirmed diagnosis of HD based on standardized histological criteria will be enrolled at CSMC.
  • 2\. Able to provide written informed assent if between the ages of 7 and 17. If age 6 and under, able to participate with parental permission.
  • 3\. Have consented to have specimens tested for genetics, immune responses, stool microflora.
  • Case Ascertainment:
  • All patients with a confirmed diagnosis of HD are eligible for enrollment. A diagnosis of HD for this study will require:
  • 1)Documented histopathology showing absence of ganglion cells and is consistent with the diagnosis of HD.

Exclusion

  • 1\. Intestinal neuronal dysplasia
  • 2\. Pseudo-obstruction

Key Trial Info

Start Date :

February 1 2010

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 1 2025

Estimated Enrollment :

400 Patients enrolled

Trial Details

Trial ID

NCT02193685

Start Date

February 1 2010

End Date

December 1 2025

Last Update

August 12 2016

Active Locations (1)

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1

Cedars-Sinai Medical Center 8723 Alden Drive, Suite 240

Los Angeles, California, United States, 90048