The Prevalence and Impacts of Nudix Hydrolase 15 (NUDT15) Gene Variants in Taiwanese Inflammatory Bowel Disease

Recruiting

• Conditions: Nudt15 Deficiency; Neutropenia; Inflammatory Bowel Diseases

• Registration Number: NCT06913998
• Lead Sponsor: National Taiwan University Hospital

Brief Summary

The study will include participants who were diagnosed with inflammatory disease and followed up at National Taiwan University Children's Hospital. The investigators will check the NUDT15 gene test, if the participant agrees to do an additional blood test. The result of the gene test will be analyzed and compared with other clinical data.

Detailed Description

In inflammatory bowel disease (IBD), thiopurines play an important role in maintenance of steroid-free remission but possess risk of life-threatening neutropenia, which is associated with gene variants of NUDT15 in Asians. In order to better incorporate thiopurines in clinical practice, the investigators aim to summarize the prevalence and impacts of NUDT15 variation in IBD in Taiwan. The study will include participants who were diagnosed with inflammatory disease and followed up at National Taiwan University Children's Hospital. The investigators will check the NUDT15 gene test, if the participant agrees to do an additional blood test. The result of the gene test will be analyzed and compared with other clinical data.

Study Timeline

• Study Start: 2023-12-27
• Status Verified: 2024-11
• Study First Submitted: 2025-03-30
• Study First Submitted QC: 2025-03-30
• Study First Posted: 2025-04-06
• Last Update Submitted: 2025-04-06
• Last Update Posted: 2025-04-08
• Primary Completion: 2026-01
• Study Completion: 2026-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 65

Inclusion Criteria

• Participants who are diagnosed with inflammatory bowel disease.

Exclusion Criteria

• Participants who refused to have blood test for NUDT15 gene evaluation.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Neutropenia	2 years	Neutropenia is defined as absolute neutrophil count \<1500/microL, and severe neutropenia is defined as absolute neutrophil count \<500/microL.

Trial Locations

Locations (1)

National Taiwan University Hospital; 🇨🇳 Taipei, Taiwan