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

Launched by CEDARS-SINAI MEDICAL CENTER · Jul 17, 2014

Keywords

ClinConnect Summary

This clinical trial is studying Hirschsprung disease (HD) and a related condition called Hirschsprung-associated enterocolitis (HAEC) in children. The goal is to identify various factors—like genetics, immune responses, and gut bacteria—that may affect the likelihood of developing HAEC in children who have HD. Researchers are looking to enroll a total of 400 children: 200 who have HD but not HAEC, and 200 who have both conditions. Participants will provide blood and stool samples, allowing researchers to analyze these factors and improve our understanding of how to better manage these conditions.

To be eligible, participants must be boys or girls of any age who have a confirmed diagnosis of Hirschsprung disease based on specific laboratory tests. For children aged 7 to 17, they will need to provide written agreement to participate, while younger children can join with permission from a parent. Throughout the study, participants can expect to assist in collecting important health information and samples that will help researchers identify risk factors for HAEC, which could lead to better treatments in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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 Criteria:
• • 1. Intestinal neuronal dysplasia
• • 2. Pseudo-obstruction