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

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

Rare Iron Overloads Except C282Y Homozygosity

Study Type: Observational
Study Design: 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.

Resource links provided by NLM:

Further study details as provided by Rennes University Hospital:

Enrollment: 62
Study Start Date: March 2011
Study Completion Date: December 2014
Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
iron overloads except C282Y homozygosity
Patients with an 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.


Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01541813

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
Principal Investigator: Edouard Bardou-Jacquet, MD CHU Rennes
  More Information

Responsible Party: Rennes University Hospital Identifier: NCT01541813     History of Changes
Other Study ID Numbers: Afssaps 201O-A00866-33
Study First Received: February 24, 2012
Last Updated: March 9, 2015

Keywords provided by Rennes University Hospital:
Rare iron overload

Additional relevant MeSH terms:
Iron Overload
Iron Metabolism Disorders
Metabolic Diseases
Trace Elements
Growth Substances
Physiological Effects of Drugs
Anti-Infective Agents processed this record on August 16, 2017