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

Status unconfirmed

Conditions studied: Hirschsprung Disease, Enterocolitis

In brief

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 children who carry the diagnosis of HD. The newly formed HAEC Collaborative Research Group (HCRG) will utilize the 4 participating centers in the current consortia and recruit additional centers to enroll children diagnosed with Hirschsprung disease. 1a: To recruit 200 patients with Hirschsprung disease without HAEC. 1b: To recruit 200 patients with Hirschsprung disease and HAEC using standardized diagnostic criteria by collaborating with participating members of the HAEC Collaborative Research Group\[1\]. 1c: To collect clinical and demographic information from well-characterized HD patients both with and without HAEC. 1d: To collect samples blood for DNA for genome wide association study (GWAS) by high throughput SNP technology and mutational analysis of known HSCR genes. 1e: To collect serum samples at the time of recruitment in a subset cohort (n=50 HD only, n=50 HD + HAEC) for serological immune markers known for inflammatory bowel disease (IBD) including ANCA, ASCA, OMPC, I2, and CBir1 and any newly identified markers. 1f: To collect and store fresh fecal specimens for future evaluation by molecular methodologies to determine relative proportions of enteric microflora in a subset cohort (n=50 HD only, n=50 HD + HAEC) of children (\<18 years). 1g: To establish a Centralized Data Coordinating Center for data collection, data quality and detailed data analyses (CSMC) and tissue bank (CSMC) to facilitate specimen analysis for this study. The HAEC risk factor identification will be completed by multivariate logistic regression analysis. Genetic association will be studied for each SNP in the GWAS together with all other potential risk factors. Further analysis will be carried out to evaluate multiple SNPs/genes simultaneously.

Key facts

Study ID

NCT02193685

Run by

Cedars-Sinai Medical Center

People needed

400

Starts

2010-02-01

Expected to finish

2025-12-01

Last updated by the study team

2016-08-12

Who can join

Age: 0 and older, up to 17. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

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

Where it is running

• Cedars-Sinai Medical Center 8723 Alden Drive, Suite 240 — Los Angeles, California, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.