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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R139C

Developed by Shray Alag, 2020-2021.
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 266
PSMB4 ACP5 NABP1 JAK3 RPS7 SRP54 ARHGAP31 MS4A1 LCK NPM1 ZBTB16 WIPF1 ERCC6L2 TINF2 LYST CD247 RPS26 LEP CD3E IL7 CTPS1 RPS17 FANCM ATM GBA RPS15A FANCF JAK3 DDX41 RAG2 PGM3 FOXN1 IL2RG PIK3CD MSN PALB2 PNP MYSM1 TNFSF12 RAC2 MYC LEPR RAD51C UNC119 FANCE RFXANK WIPF1 WAS TGFB1 TINF2 CYBC1 BCOR RAG2 RAG1 SGPL1 FANCC RARA BRIP1 GATA2 ZBTB24 GFI1 CD19 CD3D CD81 BRCA1 EXTL3 ATM IL7R RPS10 FANCG STAT4 TERT NOTCH1 RPL27 CBL SEMA3E BRCA2 SRSF2 AK2 RPL11 FASLG STAT5B VPS45 BCL11B ADAMTS3 IVNS1ABP VPS13B DOCK8 PRKCD SLC7A7 TTC37 CD8A DOCK6 CD3E ATP6AP1 PTPRC FOXN1 STAT3 KNSTRN RPL15 TERC PRKAR1A ADA2 TERT RPS14 FANCD2 PTPN22 RAG1 CD3G SMARCAL1 CR2 TREX1 G6PC3 TFR2 ICOS DNAJC21 MAD2L2 DNMT3B RPL35 FANCL ADA FAS IL2RA PGM3 FANCB EOGT CD3D CDCA7 PIK3R1 PNP SP110 VPS33A SLC46A1 ICOS SLX4 MDM4 RFX5 NBN FCGR2B DNMT3B RPL31 IL2RG CTLA4 ZAP70 MAGT1 TNFRSF13B IRF2BP2 TET2 ASXL1 WAS SAMD9 SLC7A7 RPL5 RPS27 CD247 RMRP RPS24 FANCF RPL35A FAS NSMCE3 TCIRG1 UBE2T DKC1 RTEL1 STING1 CASP10 STAT1 DLL4 SRP54 MYD88 TNFRSF13C NFKB1 SMARCAL1 IRAK1 RPL18 RUNX1 FAT4 CIITA RAG1 IGHM CXCR4 NFKB2 PIK3CD CCBE1 TBXAS1 HELLS XRCC4 DOCK2 PSMB9 TNFAIP3 PRF1 MTHFD1 ERCC4 SKIV2L NUMA1 RAG2 STAT1 RAD51 TRNT1 MMUT XRCC2 FANCI ITK IKZF1 SCARB2 GATA1 WDR1 SPP1 ADA2 RBPJ TSR2 RAC2 RPL35A PML TPP2 SARS2 TCN2 TTI2 FIP1L1 CHD7 RAG1 ELANE RFWD3 CORO1A HMGCL TBL1XR1 SBDS RFXAP EFL1 DNASE1 RAG1 TCF3 IL2RG PTEN RRAS2 HLA-DRB1 NFKB2 RASGRP1 AK2 FANCA RPS19 RPS29 RPL26 DCLRE1C LRBA ELANE BLOC1S6 NHEJ1 PTEN EXTL3 EPG5 FOXN1 PRKCD IL7R CTLA4 GFI1 TNFSF12 RAG2 ADA FCGR2A IVD STK4 RPS28 MYSM1 BTNL2
Protein Mutations 1
R139C
SNP 0