*IBDome; Identification of rare variants in candidate genes and regulatory elements in familiar and sporadic early-onset IBD (inflammatory bowel disease) patients*

Completed

• Conditions: inflammatory bowel disease; ulcerative colitis or Crohn; 10017969; 10003816

• Registration Number: NL-OMON41478
• Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 0

Inclusion Criteria

(1) Diagnosis of IBD according to the IBD guidelines including endoscopic investigation with histologic abnormalities suspicious for IBD.
(2) Age at diagnosis between 0- 17 years
(3) Family member of pediatric IBD patient

Exclusion Criteria

No informed consent obtained for present study. We will refrain from taking the extra blood for our research if the venipuncture is difficult to perform and/or the child is distressed.

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Identification of rare variants in IBD candidate genes by analyzing the<br /><br>differences in genetic profile between patients and family members and between<br /><br>patients and controls. Major goal is to extend our understanding of genetic<br /><br>components in sporadic cases of early onset IBD with an emphasis on rare<br /><br>variants and to identify individual causative mutations in familial cases. We<br /><br>will correlate clinical information (age of onset, clinical data, associated<br /><br>diseases) with observed variants of candidate genes. In familiar cases, only<br /><br>affected family members will be sequenced by next generation sequencing.<br /><br>Unaffected family members will be sequenced by traditional Sanger sequencing<br /><br>for variants identified in the affected family members.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>When we find novel diagnostic genes, the Diagnostic Section of Medical Genetics<br /><br>might include sequencing of the new gene(s) into their standard pipeline. This<br /><br>practical implementation of our study will be done according to their<br /><br>diagnostic standards and internal protocols.</p><br>