SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00433862

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Molecular Changes and Biomarkers in Chronic Myeloproliferative Disorders

The three main chronic myeloproliferative disorders are polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). These are clonal neoplastic diseases characterized by proliferation of one or more hematopoietic lineages. Recently a mutation of the Janus Kinase 2 (JAK2) gene that leads to the substitution of phenylalanine for valine at position 617 of the JAK2 protein, JAK2 V617F, has been found in 76% to 97% of patients with PV, 29% to 57% of patients with ET and 50% of patients with IMF. This mutation confers constitutive activity on to the JAK2 protein and appears to play an important role in the pathobiology of these conditions. However, not all patients with myeloproliferative disorders have this mutation and it may not be the primary cause of these diseases. The primary goal of this prospective natural history study is to investigate the molecular basis of these diseases in groups of patients who have JAK2 V617F and in those who do not. A second goal is to identify biomarkers for PV and the other myeloproliferative disorders that are easier to measure than JAK2 V617F. Approximately, 150 patients with myeloproliferative disorders will be studied over 3 years. The studies will involve the collection of 40 mL to 50 mL of peripheral blood from each subject. The blood will be used to assess neutrophil gene and protein expression, gene polymorphisms, and plasma protein levels.

NCT00433862 Polycythemia Vera Essential Thrombocytosis Idiopathic Myelofibrosis Neutrophils Chronic Myeloproliferative Disorders
MeSH: Disease Primary Myelofibrosis Polycythemia Polycythemia Vera Myeloproliferative Disorders Thrombocytosis Thrombocythemia, Essential
HPO: Myeloproliferative disorder Polycythemia Thrombocytosis



Time Perspective: Prospective


There is one SNP

SNPs


1 V617F

Recently a mutation of the Janus Kinase 2 (JAK2) gene that leads to the substitution of phenylalanine for valine at position 617 of the JAK2 protein, JAK2 V617F, has been found in 76% to 97% of patients with PV, 29% to 57% of patients with ET and 50% of patients with IMF. --- V617F ---

The primary goal of this prospective natural history study is to investigate the molecular basis of these diseases in groups of patients who have JAK2 V617F and in those who do not. --- V617F ---

A second goal is to identify biomarkers for PV and the other myeloproliferative disorders that are easier to measure than JAK2 V617F. --- V617F ---



HPO Nodes


HPO:
Myeloproliferative disorder
Genes 12
GATA2 MPL SH2B3 PDGFRA BCR JAK2 PDGFRB ABL1 THPO CALR RUNX1 GATA1
Polycythemia
Genes 15
PKLR SH2B3 VHL JAK2 ENG EPO EPOR SLC30A10 EPAS1 EGLN1 BPGM ACVRL1 CYB5R3 FH GATA1
Thrombocytosis
Genes 25
MPL IFNGR1 CD55 JAK2 TET2 ELANE RPS19 RPSA HMGCL TMEM173 ABL1 THPO RUNX1 ZMPSTE24 LMNA SH2B3 HBB BCR ACAT1 ADA2 MTHFD1 CALR TTC37 TBC1D24 PMM2