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Report for Clinical Trial NCT01608204

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Busulfan Pharmacokinetic Analysis and GST Pharmacogenetic Profile in Adults Undergoing Hematological Stem Cell Transplantation

The correlation between Busulfan Pharmacokinetics in AML transplanted patients and their GST (A1,T1,M1 and P1), MDR-1 genetic profile. If a pre-genetic testing of those genes can be utilized as biomarkers of SOS and/or HGVHD. This study is not an interventional study it is only checking the GST gene and MDR-1 gene

NCT01608204 Acute Myeloid Leukemia
MeSH:Leukemia, Myeloid Leukemia, Myeloid, Acute
HPO:Acute megakaryocytic leukemia Acute myeloid leukemia Myeloid leukemia

Primary Outcomes

Description: If individuals diagnosed with AML carrying the GSTP1 variant allele rs1695 (heterozygotes) are at risk of developing supra-therapeutic BU AUC due to lower BU clearance, and if combined polymorphisms in GSTM1 and ABCB1 (3435 or 2677) are associated with BU clearance rates and AUC.

Measure: If GST and ABCB1 genes modify busulfan pharmacokinetics in AML patients who will be transplanted

Time: end of BMT transplantation
Time Perspective: Prospective

There is one SNP

SNPs

1 rs1695

If individuals diagnosed with AML carrying the GSTP1 variant allele rs1695 (heterozygotes) are at risk of developing supra-therapeutic BU AUC due to lower BU clearance, and if combined polymorphisms in GSTM1 and ABCB1 (3435 or 2677) are associated with BU clearance rates and AUC.. Inclusion Criteria: - Acute Myeloid Leukemia who are clinically selected for HSCT according to known protocols.


HPO Nodes

HPO:
HP:0006733: Acute megakaryocytic leukemia
Genes 1
GATA1
Protein Mutations 0
SNP 0
HP:0004808: Acute myeloid leukemia
Genes 48
CBFB KRAS ASXL1 SBDS EFL1 SF3B1 RPS14 ELANE SRP54 NPM1 NUP214 JAK2 SBDS TET2 TET2 FLT3 TET2 ETV6 PICALM GFI1 TERT DNAJC21 KIT JAK2 SH3GL1 KIT TCIRG1 RUNX1 SRP54 SRP54 DNMT3A DNAJC21 PIGA GATA2 DDX41 DKC1 DNAJC21 CHIC2 GFI1 SRSF2 MPL MLLT10 THPO LPP BRCA2 CEBPA RUNX1 ERBB3
Protein Mutations 22
D835Y I332E N682S R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S239D T315I T351I V617F
SNP 4
rs12459419 rs1695 rs230561 rs3816527
HP:0012324: Myeloid leukemia
Genes 20
NF1 F13A1 PTPN11 SAMD9L ASXL1 CBL TERC SAMD9L SETBP1 KRAS NRAS TET2 GATA2 TERT ARHGAP26 KIT SRSF2 F13B CBL DNMT3A
Protein Mutations 33
D835Y E255K F317L F359C F359V G250E H369P I332E L248V N682S Q252H R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S239D T315A T315I T351I V299L V617F Y253H
SNP 9
rs10509681 rs11572080 rs12459419 rs1695 rs2032582 rs230561 rs3816527 rs628031 rs776746