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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R139C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Effectiveness of Thiopurine Dose Optimization by NUDT 15 R139C on Reducing Thiopurine-induced Leucopenia in Inflammatory Bowel Disease

NUDT15 R139C was comfirmed to be associated with thiopurine-induced leukopenia inflammatory bowel disease (IBD) cohort.The present study aim to explor the following questions:can optimizing thiopurine dose by NUDT15 genotype reduce thiopurine-induced leucopenia?What is the influence of this optimizing strategy on clinical outcome?Thus,we conduct a randomised controlled study.Subject in the conventional group detect NUDT15 genotype before thiopurine use and optimise dosage according to the genotype.While the subjects in the control group follow the conventional monitor strategy.The primary endpoint was the rate of leukopenia.The secondary endopoint was the efficacy of thiopurine.The follow up duration was 1 year.

NCT02929706
Conditions
  1. Thiopurine-induced Leukopenia
Interventions
  1. Genetic: Pre-genotype NUDT15 and optimize azathioprine dosage
MeSH:Inflammatory Bowel Diseases Leukopenia
HPO:Inflammation of the large intestine Leukopenia

Effectiveness of Thiopurine Dose Optimization by NUDT 15 R139C on Reducing Thiopurine-induced Leucopenia in Inflammatory Bowel Disease. --- R139C ---

Pre-genotype NUDT 15 R139C on Reducing Thiopurine-induced Leucopenia in Inflammatory Bowel Disease NUDT15 R139C was comfirmed to be associated with thiopurine-induced leukopenia inflammatory bowel disease (IBD) cohort.The present study aim to explor the following questions:can optimizing thiopurine dose by NUDT15 genotype reduce thiopurine-induced leucopenia?What is the influence of this optimizing strategy on clinical outcome?Thus,we conduct a randomised controlled study.Subject in the conventional group detect NUDT15 genotype before thiopurine use and optimise dosage according to the genotype.While the subjects in the control group follow the conventional monitor strategy.The primary endpoint was the rate of leukopenia.The secondary endopoint was the efficacy of thiopurine.The follow up duration was 1 year. --- R139C ---

Pre-genotype NUDT 15 R139C on Reducing Thiopurine-induced Leucopenia in Inflammatory Bowel Disease NUDT15 R139C was comfirmed to be associated with thiopurine-induced leukopenia inflammatory bowel disease (IBD) cohort.The present study aim to explor the following questions:can optimizing thiopurine dose by NUDT15 genotype reduce thiopurine-induced leucopenia?What is the influence of this optimizing strategy on clinical outcome?Thus,we conduct a randomised controlled study.Subject in the conventional group detect NUDT15 genotype before thiopurine use and optimise dosage according to the genotype.While the subjects in the control group follow the conventional monitor strategy.The primary endpoint was the rate of leukopenia.The secondary endopoint was the efficacy of thiopurine.The follow up duration was 1 year. --- R139C --- --- R139C ---

Inclusion Criteria: - diagnosis of IBD with indication of the use of thiopurine Exclusion Criteria: - Contraindication of thiopurine - Previous use of thiopurine - co-treatment with 5-ASA or allopurinol Inclusion Criteria: - diagnosis of IBD with indication of the use of thiopurine Exclusion Criteria: - Contraindication of thiopurine - Previous use of thiopurine - co-treatment with 5-ASA or allopurinol Thiopurine-induced Leukopenia Inflammatory Bowel Diseases Leukopenia We included patients diagnosis of IBD (>18 yrs old) with indication of the use of thiopurine.Group A (intervention): AZA dose optimization by testing for NUDT15 R139C- testing results will be informed.Group B (control):AZA dose optimization according to standard guideline - testing results will not be informed.The participants will be followed for 9 month. --- R139C ---

Primary Outcomes

Measure: difference of incidence of leucopenia ADR

Time: 1 year


HPO Nodes


HP:0001882: Leukopenia
Genes 262
IVD NHEJ1 ZBTB16 RPS19 AK2 MMUT DNAJC21 CD81 CD3E PGM3 NABP1 IL2RG CD3G NUMA1 FOXN1 DLL4 CD247 RPL5 FCGR2B STAT1 GBA ZBTB24 ADA2 FANCI SCARB2 EXTL3 DNMT3B TERT STAT4 STING1 RAD51C STK4 NFKB1 SLX4 IKZF1 FANCF RFXAP HELLS MDM4 IL7 ATM SMARCAL1 FANCD2 PRF1 RAD51 VPS45 TRNT1 CD247 CTPS1 STAT5B ERCC4 MYC ADA RAG1 ICOS RAG1 CDCA7 GFI1 BLOC1S6 BCL11B RMRP CD3D ERCC6L2 PRKCD GATA2 LYST XRCC2 WAS RPS7 FANCL RAG2 SPP1 BRIP1 LEP ASXL1 GATA1 PRKCD CCBE1 ACP5 FIP1L1 MTHFD1 SLC7A7 LCK MYSM1 SEMA3E VPS33A RASGRP1 RAG2 DKC1 TET2 IL7R CD3E EPG5 RPL15 NSMCE3 BCOR PIK3CD RPL35A RPL35A RARA EOGT RPS15A TINF2 FANCE FCGR2A RAG2 RAC2 TNFRSF13C DDX41 FANCF CORO1A PIK3R1 RPL26 SBDS PIK3CD PTEN BRCA1 RPS27 FANCM ADA FASLG UNC119 SMARCAL1 TNFAIP3 FANCC NOTCH1 CD8A MSN CR2 UBE2T RAG1 RFXANK VPS13B LEPR IL2RA DNASE1 ATM RPL27 WDR1 AK2 ZAP70 IL2RG PNP FOXN1 STAT3 DOCK2 SRSF2 RUNX1 WIPF1 CD3D RPS24 RPL35 FANCG RPS17 FAS DCLRE1C RPS14 ELANE PSMB9 FAS ARHGAP31 PGM3 RTEL1 G6PC3 MS4A1 NFKB2 CD19 EXTL3 CBL ADAMTS3 TCIRG1 TCF3 SAMD9 TGFB1 ADA2 CHD7 TNFRSF13B FAT4 SP110 XRCC4 FANCA TTC37 TBL1XR1 MAD2L2 NFKB2 PNP MYD88 RFX5 CYBC1 RFWD3 PALB2 PSMB4 SKIV2L RPL31 IRAK1 JAK3 RPL18 RAG1 SGPL1 PRKAR1A TERC PTEN ELANE NPM1 RAG2 CXCR4 RAC2 CTLA4 DNMT3B BRCA2 TERT HMGCL IRF2BP2 EFL1 MAGT1 CIITA SRP54 MYSM1 ATP6AP1 SARS2 PML RAG1 TREX1 BTNL2 TBXAS1 RPS29 WAS KNSTRN FANCB PTPRC TSR2 RPS10 RPL11 ICOS GFI1 DOCK6 TCN2 SLC46A1 SLC7A7 TNFSF12 TPP2 TINF2 TFR2 IVNS1ABP IL7R RRAS2 RPS28 WIPF1 SRP54 TNFSF12 IGHM CTLA4 PTPN22 DOCK8 RPS26 NBN HLA-DRB1 TTI2 FOXN1 STAT1 CASP10 RBPJ
Protein Mutations 1
R139C
SNP 0