inflammatory bowel disease ulcerative colitis or Crohn
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of rare variants in IBD candidate genes by analyzing the differences in genetic profile between patients and family members and between patients and controls. Major goal is to extend our understanding of genetic components in sporadic cases of early onset IBD with an emphasis on rare variants and to identify individual causative mutations in familial cases. We will correlate clinical information (age of onset, clinical data, associated diseases) with observed variants of candidate genes. In familiar cases, only affected family members will be sequenced by next generation sequencing. Unaffected family members will be sequenced by traditional Sanger sequencing for variants identified in the affected family members. | — |
Secondary
| Measure | Time frame |
|---|---|
| When we find novel diagnostic genes, the Diagnostic Section of Medical Genetics might include sequencing of the new gene(s) into their standard pipeline. This practical implementation of our study will be done according to their diagnostic standards and internal protocols. | — |
Countries
Netherlands
Outcome results
None listed