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

March 9, 2015 updated by: Rennes University Hospital

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.

Study Overview

Status

Terminated

Conditions

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.

Study Type

Observational

Enrollment (Actual)

62

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Kremlin-Bicêtre, France, 94270
        • Kremlin-Bicêtre Hospital
      • Lille, France, 59037
        • CHRU - Huriez Hospital
      • Limoges, France, 87042
        • Limoges CHU
      • Lyon, France, 69945
        • Lyon Sud Hospital
      • Marseille, France, 13385
        • Hospital of conception
      • Montpellier, France, 34295
        • Saint Eloi Hospital - CHU
      • Mulhouse, France, 68070
        • Emilie Muller Hospital
      • Mulhouse, France, 68070
        • Hospital Center
      • Orléans, France, 45067
        • BP 86709
      • Toulouse, France, 31059
        • Purpan CHU

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with a rare iron overloads except C282Y homozygosity.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
iron overloads except C282Y homozygosity
Patients with an iron overloads except C282Y homozygosity

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Rennes University Hospital

Investigators

  • Principal Investigator: Edouard Bardou-Jacquet, MD, CHU Rennes

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2011

Primary Completion (Actual)

August 1, 2014

Study Completion (Actual)

December 1, 2014

Study Registration Dates

First Submitted

February 24, 2012

First Submitted That Met QC Criteria

February 29, 2012

First Posted (Estimate)

March 1, 2012

Study Record Updates

Last Update Posted (Estimate)

March 10, 2015

Last Update Submitted That Met QC Criteria

March 9, 2015

Last Verified

August 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Afssaps 201O-A00866-33

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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