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Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization. (HEPCIDEF)

This study has been terminated.
(rare overload and low recruitment)
Sponsor:
Information provided by (Responsible Party):
Rennes University Hospital
ClinicalTrials.gov Identifier:
NCT01541813
First received: February 24, 2012
Last updated: March 9, 2015
Last verified: August 2014
History of Changes

February 24, 2012
March 9, 2015
March 2011
August 2014   (final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01541813 on ClinicalTrials.gov Archive Site
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Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.
Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Chronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. The study explores this specific cause, and aim to characterize this iron overload in term of clinical, biological, genetic and functional specificities.

One of chronic iron overload profiles is a deficit in hepcidin. Hepcidin is the regulating hormone for iron. This specific profile is characterized by an elevated serum iron, an elevated transferrin saturation, and parenchymal damages of iron overload. This disease is not connected with known mutations of iron metabolism genes.

The main objective of this study is the clinical, biological, genetic and functional characterization of rare iron overload phenotypes associated with hepcidin deficiency except C282Y homozygosity.
Observational
Observational Model: Cohort
Time Perspective: Prospective
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Non-Probability Sample
Patients with a rare iron overloads except C282Y homozygosity.
Rare Iron Overloads Except C282Y Homozygosity
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iron overloads except C282Y homozygosity
Patients with an iron overloads except C282Y homozygosity
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Terminated
62
December 2014
August 2014   (final data collection date for primary outcome measure)

Inclusion criteria:

  • Biological profile suggesting hepcidin deficiency:

    • high serum iron (> 25μmol / l) checked at least 2 times.
    • increased transferrin saturation coefficient (> 50 %) checked at least 2 times, and calculated from transferrinemia.
  • Proved hepatic iron overload: using a dosage of iron hepatic concentration either on hepatic biopsy, or by MRI according to the method of iron overload quantification. A threshold of 100 µmol / g is set.
  • Patient's written consent for examination and collection of genetic data to set the diagnosis.

Non inclusion criteria:

  • HFE hemochromatosis: C282Y/C282Y homozygosity
  • Treatment by iterative phlebotomies (more than 2 phlebotomies)
  • Hematological diseases with dyserythropoiesis and/or repeated transfusions
  • Low haptoglobin level, suggesting chronic hemolysis or myelodysplasia
  • Long-term iron oral and/or parenteral supplementation
Both
Child, Adult, Senior
No
Contact information is only displayed when the study is recruiting subjects
France
 
NCT01541813
Afssaps 201O-A00866-33
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Rennes University Hospital
Rennes University Hospital
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Principal Investigator: Edouard Bardou-Jacquet, MD CHU Rennes
Rennes University Hospital
August 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP