Identifying risk factors for enterocolitis in children with Hirschsprung disease
Identification of Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
This study is trying to find out what genetic and other factors might lead to enterocolitis in children with Hirschsprung disease to help improve their care.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 1 Day to 17 Years |
| Sex | All |
| Sponsor | Cedars-Sinai Medical Center Academic / other |
| Locations | 1 site (Los Angeles, California) |
| Trial ID | NCT02193685 on ClinicalTrials.gov |
What this trial studies
This study aims to identify genetic, immunologic, and microbial markers that influence the development of Hirschsprung Associated Enterocolitis (HAEC) in children diagnosed with Hirschsprung Disease (HD). It will recruit 200 patients with HD who do not have HAEC and 200 patients who do, collecting clinical and demographic data along with biological samples for genetic analysis. The research will involve collaboration among multiple centers to ensure a comprehensive understanding of the factors contributing to HAEC. The goal is to enhance the understanding of this condition and improve patient outcomes through better risk assessment.
Who should consider this trial
Good fit: Ideal candidates for this study are children aged 0 to 17 with a confirmed diagnosis of Hirschsprung disease.
Not a fit: Patients with intestinal neuronal dysplasia or pseudo-obstruction may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved identification and management of children at risk for developing HAEC, potentially reducing severe complications.
How similar studies have performed: While there is emerging data on HAEC, this study represents a novel approach to understanding its genetic and microbial underpinnings.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Los Angeles, California
- Cedars-Sinai Medical Center 8723 Alden Drive, Suite 240 — Los Angeles, California, United States (Recruiting)
Study contacts
- Principal investigator: Philip K Frykman, MD, PhD, MBA — Associate Professor, Surgery and Biomedical Sciences Associate Director, Pediactic Surgery for Cedars-Sinai Medical Center
- Study coordinator: Philip K Frykman, MD, PhD, MBA
- Email: philip.frykman@cshs.org
- Phone: 310-423-6235
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.