RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2010-02
Study Completion:2025-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02193685

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Day to 17 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD
Inclusion CriteriaExclusion Criteria
  1. * 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. * 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. * 3. Have consented to have specimens tested for genetics, immune responses, stool microflora.
  4. * 1)Documented histopathology showing absence of ganglion cells and is consistent with the diagnosis of HD.
  1. * 1. Intestinal neuronal dysplasia
  2. * 2. Pseudo-obstruction

Contacts and Locations

Study Contact

Philip K Frykman, MD, PhD, MBA
CONTACT
310-423-6235
philip.frykman@cshs.org
Denice M Dubuclet, DC
CONTACT
310-423-6996
denice.dubuclet@cshs.org

Principal Investigator

Philip K Frykman, MD, PhD, MBA
PRINCIPAL_INVESTIGATOR
Associate Professor, Surgery and Biomedical Sciences Associate Director, Pediactic Surgery for Cedars-Sinai Medical Center

Study Locations (Sites)

Cedars-Sinai Medical Center 8723 Alden Drive, Suite 240
Los Angeles, California, 90048
United States

Collaborators and Investigators

Sponsor: Cedars-Sinai Medical Center

  • Philip K Frykman, MD, PhD, MBA, PRINCIPAL_INVESTIGATOR, Associate Professor, Surgery and Biomedical Sciences Associate Director, Pediactic Surgery for Cedars-Sinai Medical Center

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-02
Study Completion Date2025-12

Study Record Updates

Study Start Date2010-02
Study Completion Date2025-12

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Hirschsprung Disease
  • Enterocolitis