Recruiting

Genetic Markers

Sponsor:

Cedars-Sinai Medical Center

Code:

NCT02193685

Conditions

Hirschsprung Disease

Enterocolitis

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

Study Details

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 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.

Conditions

Hirschsprung Disease

Enterocolitis

Study ID

NCT02193685

Start date

Feb, 2010

Status verified date

Aug, 2016

Completion date

Dec, 2025

Anticipated

Primary completion date

Dec, 2022

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 17

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

400 participants

Anticipated

Interventions and Outcome Measures

Arms

Subjects with HAEC

There is no intervention involvement. The clinical data and biologic specimens collected during the study will serve as an invaluable resource for a wide spectrum of clinical and translational ancillary studies directly related to the aims and goals of the study.

Subjects without HAEC

A subgroup of children who have Hirschsprung Disease may or may not develop enterocolitis; therefore we will be identifying the bio-markers in children with or without associated enterocolitis.

Primary outcome measure

  • To identify genetic associations in HD patients who display HAEC phenotype [ Time Frame: 7 years ]

Central Contacts and Locations

Central contacts

Philip K Frykman, MD, PhD, MBA

310-423-6235philip.frykman@cshs.org

Denice M Dubuclet, DC

310-423-6996denice.dubuclet@cshs.org

Locations

Cedars-Sinai Medical Center 8723 Alden Drive, Suite 240

Recruiting

Los Angeles, California, United States, 90048

Contacts

Philip K Frykman, MD, PhD, MBA

310-423-6235philip.frykman@cshs.org

Denice M Dubuclet, DC

310-423-6996denice.dubuclet@cshs.org

Principal Investigator:

Philip K Frykman, MD, PhD, MBA

More Information

Sponsor

Cedars-Sinai Medical Center

Last update posted

Aug 12, 2016

Last verified

Aug, 2016

Keywords

  • (HAEC) Hirschsprung Associated Entrocolistis
  • (HD) Hirschsprung Disease
  • (IBD) Inflammatory Bowel Disease
  • Children

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Cedars-Sinai Medical Center on 2016-08-12.