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Report for Clinical Trial NCT00873574

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Molecular Study of Factors Involved in JAK-STAT Signalling Pathway in Familial Myeloproliferative Disorders

The main goal of the study is to progress in our understanding of the molecular basis of myeloproliferative disorders of the bone marrow (polycythemia vera, essential thrombocythemia, primary myelofibrosis). The study will focus on the genes encoding factors implicated in the JAK-STAT pathway which has an essential role in these diseases

NCT00873574 Myeloproliferative Disorders
MeSH:Myeloproliferative Disorders Disease
HPO:Myeloproliferative disorder

1 Interventions

Name: Blood samples and buccal swabs

Description: Peripheral blood samples (35 ml) and buccal swabs
Type: Biological
Group Labels: 2

1 2

Primary Outcomes

Measure: Allelic frequency comparison between the 2 cohorts

Time: At the inclusion visit

Secondary Outcomes

Measure: Undescribed gene mutations.

Time: At the inclusion visit

Time Perspective: Cross-Sectional

Case Control

There is one SNP


1 V617F

The recent identification of a recurrent activating tyrosine kinase mutation V617F in the JAK2 gene provides a breakthrough in the understanding of the molecular mechanisms of these diseases. --- V617F ---

The investigators have shown actually that the mutation V617F is a somatic one which is variably expressed among patients in the same family.Other somatic mutations and inherited factors, still unknown, may explain these discrepancies. --- V617F ---

JAK-STAT pathway has an essential role in non-CML MPD as was shown by the functional consequences of the V617F JAK2 mutation. --- V617F ---

HPO Nodes