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Report for Clinical Trial NCT00433862

Developed by Shray Alag, 2020.
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: Polycythemia Vera Primary Myelofibrosis Polycythemia Myeloproliferative Disorders Thrombocytosis Thrombocythemia, Essential Disease
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 14
CALR THPO PDGFRA CALR SH2B3 JAK2 GATA2 BCR ABL1 PDGFRB MPL SH2B3 GATA1 RUNX1
Polycythemia
Genes 19
EPO CCND1 ACVRL1 GATA1 VHL EPAS1 EGLN1 FH SLC30A10 SLC30A10 CYB5R3 SH2B3 PKLR JAK2 JAK2 EPOR BPGM ENG VHL
Thrombocytosis
Genes 37
TTC37 RPSA MPL THPO HMGCL SKIV2L CD55 ACAT1 TBC1D24 THPO CALR SH2B3 PMM2 TTC37 MTHFD1 ADA2 JAK2 RUNX1 TET2 LMNA JAK2 JAK2 CALR IFNGR1 ELANE MPL RPS14 SF3B1 RPS19 HBB STING1 MPL BCR TET2 JAK2 ABL1 ZMPSTE24