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Completed

NCT Number: NCT02619955

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.

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Key information

Conditions

Rare Iron Overlaods

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Limoges - Médecine interne A, Limoges, France

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About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.
  • 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.

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

Treatment and study plan

samples with DNA

Other

Primary outcomes

  1. Number of patients presenting with mutation in gene know to be associated with iron metabolism

    Time frame: Inclusion

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

Secondary outcomes

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

    Time frame: inclusion

    To Identificate potential explanatory factors of hepcidino deficiency phenotype

  2. Number of patients presenting with associated causes of iron overload

    Time frame: inclusion

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

  3. Genotype-Phenotype correlation

    Time frame: Inclusion

    To Research correlations genotype-phenotype

  4. Hepatic and splenic iron concentration measurements by NMR

    Time frame: Inclusion

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

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

    Time frame: Inclusion

    • Assessment of the clinical value of biomarkers of iron metabolism

Sponsors and collaborators

Lead sponsor

Rennes University Hospital

Other

Registry information

Official study title

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

Acronym: HEPCICOR

Important dates

Study start
2016
Primary completion
2023
Study completion
2023
First posted
Dec 2, 2015
Registry last updated
Jan 18, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.