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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Rennes University Hospital
Information provided by (Responsible Party):
Rennes University Hospital
ClinicalTrials.gov Identifier:
First received: February 24, 2012
Last updated: December 24, 2013
Last verified: December 2013

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:

Estimated Enrollment: 200
Study Start Date: March 2011
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: March 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.


Genders Eligible for Study:   Both
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 ClinicalTrials.gov identifier: NCT01541813

Kremlin-Bicêtre Hospital Recruiting
Kremlin-Bicêtre, France, 94270
Contact: Buffet Catherine, MD    +33-145-213-721    catherine.buffet@bct.aphp.fr   
Principal Investigator: Buffet Catherine         
Sub-Investigator: Pelletier Gilles, MD, PhD         
Sub-Investigator: Attali Pierre, MD         
Sub-Investigator: LECOMPTE Marie Véronique, MD         
CHRU - Huriez Hospital Recruiting
Lille, France, 59037
Contact: CANVA Valérie, MD    +33-320-445-597    valerie.canva@chru-lille.fr   
Principal Investigator: Canva Valérie         
Sub-Investigator: Louvet Alexandre, MD         
Limoges CHU Recruiting
Limoges, France, 87042
Contact: Loustaud-Ratti Véronique, MD    +33-555-056-641    veronique.loustaud-ratti@unilim.fr   
Principal Investigator: Loustaud-Ratti Véronique         
Sub-Investigator: DEBETTE-GRATIEN Marilyne, MD         
Sub-Investigator: Carrier Paul, MD         
Lyon Sud Hospital Recruiting
Lyon, France, 69945
Contact: Vital-Durand Denis, MD, PhD    +33-478-861-357    denis.vital-durand@chu-lyon.fr   
Principal Investigator: Vital-Durand Denis, MD, PhD         
Hospital of conception Recruiting
Marseille, France, 13385
Contact: Botta-Fridlund Danielle, MD    +33-491-383-696    Danielle.botta@ap-hm.fr   
Principal Investigator: Botta-Fridlund Danielle         
Saint Eloi Hospital - CHU Recruiting
Montpellier, France, 34295
Contact: Aguilar-Martinez Patricia, MD    +33-467-337-031    p-martinez@chu-montpellier.fr   
Principal Investigator: Aguilar-Martinez Patricia         
Hospital Center Recruiting
Mulhouse, France, 68070
Contact: Drenou Bernard, MD    +33-389-647-785    drenoub@ch-mulhouse.fr   
Principal Investigator: BRENOU Bernard         
Emilie Muller Hospital Recruiting
Mulhouse, France, 68070
Contact: BADER Robert, MD    +33-389-647-049    Baderr@ch-mulhouse.fr   
Principal Investigator: BADER Robert         
BP 86709 Recruiting
Orléans, France, 45067
Contact: Causse Xavier, MD    +33-238-229-658    xavier.causse@chr-orleans.fr   
Principal Investigator: Causse Xavier         
Sub-Investigator: Potier Pascal, MD         
Sub-Investigator: Labarriere Damien, MD         
Sub-Investigator: Dauvois Barbara, MD         
Purpan CHU Recruiting
Toulouse, France, 31059
Contact: Vinel Jean-Pierre, MD    +33-561-777-744    vinel.jp@chu-toulouse.fr   
Principal Investigator: Vinel Jean-Pierre, MD, PhD         
Sub-Investigator: Alric Laurent, MD, PhD         
Sub-Investigator: Bureau Christophe, MD         
Sponsors and Collaborators
Rennes University Hospital
Principal Investigator: Edouard Bardou-Jacquet, MD CHU Rennes
  More Information

No publications provided

Responsible Party: Rennes University Hospital
ClinicalTrials.gov Identifier: NCT01541813     History of Changes
Other Study ID Numbers: Afssaps 201O-A00866-33
Study First Received: February 24, 2012
Last Updated: December 24, 2013
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
France : CCTIRS

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
Pharmacologic Actions

ClinicalTrials.gov processed this record on July 20, 2014