Genome Analysis Across Populations in Inflammatory Bowel Disease

Objective:

To use clinical, genetic and genome analysis to better understand and define the genetic and environmental factors that contribute to IBD within affected populations.

Study Overview

• Status: Recruiting
• Conditions: Healthy; Inflammatory Bowel Diseases; Crohn Disease; Ulcerative Colitis
• Intervention / Treatment: Genetic: Blood or saliva sample collection

Detailed Description

Background:

Inflammatory bowel disease (IBD) is a chronic, and often disabling, disorder of the intestines characterized by dysregulation of mucosal immune response. Recent data suggests that the incidence and prevalence rates among all populations may be increasing due to constantly changing environmental exposures. The goal of the study is to identify susceptible genes that contribute to the pathogenesis of IBD in affected individuals.

• Study Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Joanne Stempak, MSc; Phone Number: 8399 4165864800; Email: joanne.stempak@sinaihealth.ca
• Study Contact Backup: Name: Jenny Lee, MKin; Phone Number: 2318 416-586-4800; Email: jenny.lee2@sinaihealth.ca

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G 1X5
      • Recruiting
      • Sinai Health System
      • Contact: Joanne Stempak, MSc; Phone Number: 8399 4165864800; Email: joanne.stempak@sinaihealth.ca
      • Contact: Jenny Lee, MKin; Phone Number: 2318 4165864800; Email: IBD.research@sinaihealth.ca

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

IBD or Healthy controls (non-IBD)

Description

Inclusion Criteria:

• Subjects: diagnosed with Inflammatory Bowel Disease (Crohn's disease, ulcerative colitis, IBD-undetermined)
• Available medical records to confirm IBD diagnosis (Crohn's disease, Ulcerative colitis, IBD undetermined (IBD-U))
• Healthy controls: no personal history of IBD, no family history of IBD, no history of unexplained chronic diarrhea/blood in stool/anemia/abdominal pain/weight loss
• Any age

Exclusion Criteria:

- Subjects with other gastrointestinal conditions not meeting the above IBD or Healthy Control criteria

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
IBD Subjects; Available medical records to confirm IBD diagnosis (Crohn's disease, Ulcerative colitis, IBD undetermined (IBD-U)) Any age Willing to provide blood or saliva sample	Genetic: Blood or saliva sample collection; Blood or saliva sample & clinical data collection
Controls; No personal history of IBD, no family history of IBD, no history of unexplained chronic diarrhea/blood in stool/anemia/abdominal pain/weight loss Any age Willing to provide blood or saliva sample	Genetic: Blood or saliva sample collection; Blood or saliva sample & clinical data collection

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genomics studies across populations	Whole Exome Sequencing (+/- other sequencing) is planned	2022-2027

Collaborators and Investigators

• Sponsor: Mount Sinai Hospital, Canada
• Collaborators: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Investigators: Principal Investigator: Mark Silverberg, MD PhD, Sinai Health System

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2022
• Primary Completion (Estimated): May 1, 2027
• Study Completion (Estimated): September 1, 2027

Study Registration Dates

• First Submitted: May 31, 2023
• First Submitted That Met QC Criteria: September 13, 2023
• First Posted (Actual): September 18, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 20, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Gastrointestinal Diseases; Gastroenteritis; Crohn Disease; Intestinal Diseases; Inflammatory Bowel Diseases
• Other Study ID Numbers: 02-0234-E; U01DK062423 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No