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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 Thiopurine-induced Leukopenia 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


Leukopenia
Genes 214
ATM ERCC6L2 DDX41 RPL35A AK2 MSN ARHGAP31 MS4A1 RTEL1 TFR2 NFKB2 TCIRG1 RFWD3 ZBTB24 RFX5 TERT WIPF1 RASGRP1 GATA2 PRKCD CORO1A PTPN22 IRF2BP2 HMGCL STAT4 PML TERC ERCC4 FANCI WAS CD247 IL2RG GFI1 EPG5 NBN RARA AK2 GBA MAD2L2 ICOS RFXANK TNFSF12 RPS14 FANCF TNFAIP3 SMARCAL1 TINF2 LYST RFXAP FANCA STAT1 FOXN1 SLX4 CASP10 RAG2 TERT SLC7A7 TNFRSF13B LEP PTEN CD3G TBL1XR1 FIP1L1 SMARCAL1 DOCK8 VPS45 PRF1 ADA EXTL3 PTEN SAMD9 PALB2 CIITA RBPJ BCOR IL7R LCK ICOS LEPR RAG2 FANCE FANCM SLC46A1 PTPRC DNASE1 RAG1 PGM3 NABP1 RAG2 VPS13B TNFRSF13C FANCG FCGR2A TCN2 PNP NUMA1 CR2 CD3E ADA CD8A HELLS ZAP70 IGHM TCF3 STAT3 RAG2 GFI1 FAT4 TTC37 CD247 BCL11B CD19 SLC7A7 SGPL1 TREX1 MYSM1 PSMB9 CTPS1 DOCK2 CDCA7 CXCR4 RAG1 CD3E SRP54 NHEJ1 TPP2 DNMT3B TBXAS1 NOTCH1 CD3D FANCB MAGT1 RAD51 C1R DOCK6 RMRP FANCD2 SKIV2L WIPF1 FAS CTLA4 XRCC4 CHD7 SEMA3E JAK3 IL2RG PRKAR1A FCGR2B BRCA1 RAG1 SPP1 UNC119 CTLA4 RAG1 IL7R NPM1 BLOC1S6 XRCC2 STAT1 CD3D BRCA2 WAS DCLRE1C PSMB4 IL2RA HLA-DRB1 MYC ATM SP110 STK4 PRKCD ACP5 TINF2 CCBE1 EOGT MTHFD1 ADA2 PGM3 RAG1 SCARB2 FANCL FOXN1 C1QA STING1 TGFB1 IKZF1 FAS DKC1 ADAMTS3 CD81 IRAK1 ELANE MMUT NFKB1 ATP6AP1 BTNL2 FANCC BRIP1 SARS2 TNFSF12 DLL4 ZBTB16 FASLG PIK3R1 TRNT1 PIK3CD IVD RAD51C UBE2T STAT5B DNMT3B NFKB2 G6PC3 DCLRE1C
Inflammation of the large intestine
Genes 56
TTC37 RIPK1 OPLAH SLC9A3 CASP10 F13A1 RTEL1 ARPC1B MAP3K7 NCF4 XIAP IL10RA CIITA HLA-DRB1 NLRC4 FOXP3 WIPF1 RASGRP1 LRBA RFXANK TCF4 PRKCD TGFB1 FAS SKIV2L FAS CARMIL2 BACH2 RFX5 RFXAP PLCG2 MST1 IRGM IL10RB WAS GPIHBP1 SKIV2L ZAP70 COG6 HPS1 IL21 FERMT1 FASLG MASP2 IL6 HLA-B POLA1 NOD2 TNFAIP3 ZAP70 RET F13B GPR35 WAS STAT1 ABCB1