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Report for Clinical Trial NCT03263364

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Genomic Screening for Hereditary Erythrocytosis and Related Diseases

Unexplained polycythemias are rare diseases, and therefore, the collection of data inherent to these diseases will not only improve their characterisation, but also allow stratification according to the risks and the course of the disease. The objective of this project is to constitute a database on the disease which will allow us to better understand it and in due course improve its management. The GENRED project thus bears uniquely on the collection of information, which will be gathered throughout the usual management of patients for this type of disease.

NCT03263364 Hereditary Erythrocytosis/Idiopathic Erythrocytosis
MeSH:Polycythemia
HPO:Polycythemia


Primary Outcomes

Measure: Germline mutations that cause Hereditary Erythrocytosis/Idiopathic Erythrocytosis

Time: at baseline

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 V617F

The required tests are: complete blood counts - Blood electrolytes - Arterial and venous gazes - Serum erythropoietin dosage - Liver function tests - JAK2 mutations (both V617F and exon 12) - Bone marrow aspirate and/or biopsy and/or endogenous BFU-E culture - Abdominal ultrasound - Lung function tests Inclusion Criteria: The characteristics of the patients included in the database will be described in terms of numbers and percentages for qualitative variables and in terms of means and standard deviations or medians and interquartile intervals for quantitative variables. --- V617F ---

The required tests are: complete blood counts - Blood electrolytes - Arterial and venous gazes - Serum erythropoietin dosage - Liver function tests - JAK2 mutations (both V617F and exon 12) - Bone marrow aspirate and/or biopsy and/or endogenous BFU-E culture - Abdominal ultrasound - Lung function tests Hereditary Erythrocytosis/Idiopathic Erythrocytosis Polycythemia null --- V617F ---



HPO Nodes


HPO: