Genetic, Serological Fecal and Clinical Markers in Siblings of Children With Inflammatory Bowel Disease

GENETIC, SEROLOGICAL, FECAL AND CLINICAL MARKERS IN SIBLINGS OF CHILDREN WITH INFLAMMATORY BOWEL DISEASE

Although the precise etiology of inflammatory bowel disease (IBD) is still unknown, over the last decade active research allowed to gain more precise insights in the pathophysiology of IBD indicating that the chronic inflammation of the intestinal mucosa is directed against the microbiota of the gut in particularly susceptible individuals. Genetic studies and more recently genome-wide association studies (GWAS) have allowed to identify over 70 susceptibility genes which confer an increased risk of developing IBD. In the last years the attention of researchers has shifted to the identification of the early immunological changes that occur already at a preclinical stage of the disease, trying also at identifying the disease before it shows itself. Recently, the ability of a combination of serological markers in predicting the development of IBD has been demonstrated in adults. However, there are no studies evaluating a cohort of children at high risk for the disease, in whom the first immunological changes underlying the development of IBD could be studied, including a combination of genetic, serological, fecal and clinical markers.

The purpose of this study is to evaluate in a population genetically well-characterized, as siblings and twins of patients affected with IBD, early genetic, serologic, fecal and clinical markers of disease, which may be present even years before developing the disease. The identification of these markers in predisposed individuals could help to implement strategies for prevention or early treatment to modify the natural history of IBD.

Study Overview

• Status: Completed
• Conditions: Inflammatory Bowel Disease
• Intervention / Treatment: Other: sample blood and fecal collection

Detailed Description

This is a multicenter, prospective, study evaluating the role of serological, genetic, fecal and clinical markers in predicting the development of IBD in a high risk population. The study will be divided in two phases. In the first phase the prevalence of genetic, serologic, fecal, clinical risk factors in 100 siblings of children affected with IBD compared to 100 healthy children with no family history for IBD will be evaluated. The estimated duration of the first phase of the study is 12 months. In a second phase, a long-term follow-up (5 years) will be performed in order to evaluate the accidental cases of IBD in this population.

• Study Type: Interventional
• Enrollment (Actual): 200
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Italy
  • RM
    • Rome, RM, Italy, 00161
      • Department of Pediatrics, Sapienza University of Rome

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• siblings of children affected with IBD
• children without a family history of IBD

Exclusion Criteria:

• age > 18 years
• age < 6 years
• concomitant autoimmune disorders

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: siblings of patients with IBD; Blood and fecal samples from 100 siblings of children affected with IBD will be collected at the day of enrolment. Clinical risk factors for IBD will be also recorded in a case report form.	Other: sample blood and fecal collection; Blood and fecal samples will be collected at the day of enrolment
Other: patients without family history of IBD; Blood and fecal samples of 100 healthy children without a family history of IBD will be collected at the day of enrolment. Clinical risk factors for IBD will be also recorded in a case report form	Other: sample blood and fecal collection; Blood and fecal samples will be collected at the day of enrolment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To evaluate the prevalence of known susceptibility genes for IBD in siblings and twins of patients affected with IBD, compared to controls	one year
To evaluate the prevalence of serological markers of autoimmunity known as risk factors for IBD in siblings and twins of patients affected with IBD, compared to controls	one year

Secondary Outcome Measures

Outcome Measure	Time Frame
To evaluate the presence and values of fecal markers of colonic inflammation in siblings and twins of patients affected with IBD, compared to controls	one year

Collaborators and Investigators

• Sponsor: University of Roma La Sapienza

Study record dates

Study Major Dates

• Study Start: December 1, 2013
• Primary Completion (Actual): December 1, 2015
• Study Completion (Actual): May 1, 2016

Study Registration Dates

• First Submitted: July 1, 2014
• First Submitted That Met QC Criteria: July 2, 2014
• First Posted (Estimate): July 3, 2014

Study Record Updates

• Last Update Posted (Estimate): May 11, 2016
• Last Update Submitted That Met QC Criteria: May 10, 2016
• Last Verified: May 1, 2016

More Information

Terms related to this study

• Keywords: siblings; inflammatory bowel disease
• Additional Relevant MeSH Terms: Digestive System Diseases; Gastrointestinal Diseases; Gastroenteritis; Inflammatory Bowel Diseases; Intestinal Diseases
• Other Study ID Numbers: 01072014

Plan for Individual participant data (IPD)

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