ADAM17 deficiency in IBD

Functional validation of ADAM17 variants as underlying cause of difficult-to-treat inflammatory bowel disease - ADAM17 deficiency underlying refractory IBD

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON61404

Enrollment

Registered

2025-12-10

Start date

2026-09-01

Completion date

Unknown

Last updated

2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ADAM17 deficiency, ADAM17 deletion, Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1) ADAM17 deficiency

Interventions

None listed

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: Inclusion criteria for index patient:- Known compound heterozygous ADAM17 variants- Diagnosis of IBD and medium vessel vasculitis- Currently treated at the department of Rheumatology of the Zuyderland Medical Center Inclusion criteria for adult first-degree biological relatives:- First-degree biological relative of index patient- Age >18 years

Exclusion criteria

Exclusion criteria: A potential participant who meets any of the following criteria will be excluded from participation in this study:- Inability to provide written informed consent- Age <18 years

Design outcomes

Primary

Measure	Time frame
The main study parameter is functional validation of compound heterozygous ADAM17 variants as the underlying cause of refractory IBD.ADAM17 protein expressionADAM17 functional testing	—

Countries

Netherlands

Contacts

Public ContactC Magro Checa

Zuyderland

c.magrocheca@zuyderland.nl088 - 459 97 16

Outcome results