Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 60
- 试验地点
- 9
- 主要终点
- Number of patients presenting with mutation in gene know to be associated with iron metabolism
研究概览
简要总结
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.
详细描述
Chronic iron overload are responsible for morbidity and mortality. There are many causes, genetic and acquired. Hepcidin deficiency related to genetic desease is one of them.
This study concerns specifically this cause, and seeks to characterize these iron overloads on clinical, biological, genetic and functional point of view.
A significant number of patients with chronic iron overload, present a phenotype of hepcidin deficiency. This profile is characterized by an elevated plasma iron increased serum transferrin saturation, a transferrin saturation, and a parenchyma distribution of iron overload. These diseases either remains unexplained or are associated with mutations in the gene involved in iron metablism regulation.
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).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Biological profile suggestive of hepcidin deficiency:
- •increase of transferrin saturation coefficient (> 50 %) verified on at least 2 times, and calculated from the transferrinemia.
- •Proved hepatic iron overload: by the dosage of the iron hepatic concentration either on block hepatic biopsic, or by MRI according to the method of quantification of the iron validated overload (by adopting a threshold of 100 µmol /g)
- •Patient's written consent for examination of genetic characteristics for diagnosis and collection development for genetic and not genetic research within the framework of an abnormality of the iron metabolism
- •Patient written inform consent.
排除标准
- •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
结局指标
主要结局
Number of patients presenting with mutation in gene know to be associated with iron metabolism
时间窗: Inclusion
to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).
次要结局
- Number of patients presenting with associated causes of iron overload(inclusion)
- comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism(inclusion)
- Hepatic and splenic iron concentration measurements by NMR(Inclusion)
- Genotype-Phenotype correlation(Inclusion)
- Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)(Inclusion)