SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02619955

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity

The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities.

NCT02619955 Rare Iron Overlaods

1 Interventions

Name: samples with DNA

Type: Other

Rare iron overload with hepcidin deficiency


Primary Outcomes

Description: to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).

Measure: Number of patients presenting with mutation in gene know to be associated with iron metabolism

Time: Inclusion

Secondary Outcomes

Description: To Identificate potential explanatory factors of hepcidino deficiency phenotype

Measure: comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism

Time: inclusion

Description: - Identification of potentially explanatory factors visceral consequences of iron overload in hepcidino deficiency phenotype (overweight, high blood pressure, diabetes)

Measure: Number of patients presenting with associated causes of iron overload

Time: inclusion

Description: To Research correlations genotype-phenotype

Measure: Genotype-Phenotype correlation

Time: Inclusion

Description: Validation of the hepatic iron concentration measurements imaging ( nuclear magnetic resonance (NMR)) in the various centers

Measure: Hepatic and splenic iron concentration measurements by NMR

Time: Inclusion

Description: - Assessment of the clinical value of biomarkers of iron metabolism

Measure: Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)

Time: Inclusion

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 C282Y

Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity. --- C282Y ---

Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities. --- C282Y ---

Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities. --- C282Y --- --- C282Y ---

to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).. comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism. --- C282Y ---

Exclusion Criteria: - HFE hemochromatosis: homozygosity C282Y/C282Y - Treatment with iterative phlebotomy - Hematologic diseases with dyserythropoiesis and/or repeated transfusions - Haptoglobin low, below normal directing towards the diagnosis of chronic hemolysis, myelodysplasia - Prolonged oral or parenteral iron supplementation - Current or past excessive regular drinking - Patient minor or under legal protection measure Inclusion Criteria: - Biological profile suggestive of hepcidin deficiency: - increase of transferrin saturation coefficient (> 50 %) verified on at least 2 times, and calculated from the transferrinemia. --- C282Y ---

Exclusion Criteria: - HFE hemochromatosis: homozygosity C282Y/C282Y - Treatment with iterative phlebotomy - Hematologic diseases with dyserythropoiesis and/or repeated transfusions - Haptoglobin low, below normal directing towards the diagnosis of chronic hemolysis, myelodysplasia - Prolonged oral or parenteral iron supplementation - Current or past excessive regular drinking - Patient minor or under legal protection measure Rare Iron Overlaods Chronic iron overload are responsible for morbidity and mortality. --- C282Y ---

The main objective of this study is to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic). --- C282Y ---



HPO Nodes