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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01541813
Recruitment Status : Terminated (rare overload and low recruitment)
First Posted : March 1, 2012
Last Update Posted : March 10, 2015
Information provided by (Responsible Party):
Rennes University Hospital

Brief Summary:
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.

Condition or disease
Rare Iron Overloads Except C282Y Homozygosity

Detailed Description:

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.

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Study Type : Observational
Actual Enrollment : 62 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Study Start Date : March 2011
Actual Primary Completion Date : August 2014
Actual Study Completion Date : December 2014

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Iron

iron overloads except C282Y homozygosity
Patients with an iron overloads except C282Y homozygosity

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a rare iron overloads except C282Y homozygosity.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01541813

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Kremlin-Bicêtre Hospital
Kremlin-Bicêtre, France, 94270
CHRU - Huriez Hospital
Lille, France, 59037
Limoges CHU
Limoges, France, 87042
Lyon Sud Hospital
Lyon, France, 69945
Hospital of conception
Marseille, France, 13385
Saint Eloi Hospital - CHU
Montpellier, France, 34295
Emilie Muller Hospital
Mulhouse, France, 68070
Hospital Center
Mulhouse, France, 68070
BP 86709
Orléans, France, 45067
Purpan CHU
Toulouse, France, 31059
Sponsors and Collaborators
Rennes University Hospital
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Principal Investigator: Edouard Bardou-Jacquet, MD CHU Rennes

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Responsible Party: Rennes University Hospital Identifier: NCT01541813     History of Changes
Other Study ID Numbers: Afssaps 201O-A00866-33
First Posted: March 1, 2012    Key Record Dates
Last Update Posted: March 10, 2015
Last Verified: August 2014
Keywords provided by Rennes University Hospital:
Rare iron overload
Additional relevant MeSH terms:
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Iron Overload
Iron Metabolism Disorders
Metabolic Diseases
Trace Elements
Growth Substances
Physiological Effects of Drugs
Anti-Infective Agents