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

Tracking Information

First Received Date ^ICMJE

February 24, 2012

Last Updated Date

March 9, 2015

Start Date ^ICMJE

March 2011

Primary Completion Date

August 2014 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures ^ICMJE

Not Provided

Original Primary Outcome Measures ^ICMJE

Not Provided

Change History

Complete list of historical versions of study NCT01541813 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Not Provided

Original Secondary Outcome Measures ^ICMJE

Not Provided

Current Other Outcome Measures ^ICMJE

Not Provided

Original Other Outcome Measures ^ICMJE

Not Provided

Descriptive Information

Brief Title ^ICMJE

Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.

Official Title ^ICMJE

Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.

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.

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 ^ICMJE

Observational

Study Design ^ICMJE

Observational Model: Cohort
Time Perspective: Prospective

Target Follow-Up Duration

Not Provided

Biospecimen

Not Provided

Sampling Method

Non-Probability Sample

Study Population

Patients with a rare iron overloads except C282Y homozygosity.

Condition ^ICMJE

Rare Iron Overloads Except C282Y Homozygosity

Intervention ^ICMJE

Not Provided

Study Groups/Cohorts

iron overloads except C282Y homozygosity

Patients with an iron overloads except C282Y homozygosity

Publications *

Not Provided

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Terminated

Enrollment ^ICMJE

Completion Date

December 2014

Primary Completion Date

August 2014 (Final data collection date for primary outcome measure)

Eligibility Criteria ^ICMJE

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

Sex/Gender

Sexes Eligible for Study:

All

Ages

Child, Adult, Senior

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Listed Location Countries ^ICMJE

France

Removed Location Countries

Administrative Information

NCT Number ^ICMJE

NCT01541813

Other Study ID Numbers ^ICMJE

Afssaps 201O-A00866-33

Has Data Monitoring Committee

Not Provided

U.S. FDA-regulated Product

Not Provided

IPD Sharing Statement

Not Provided

Responsible Party

Rennes University Hospital

Study Sponsor ^ICMJE

Rennes University Hospital

Collaborators ^ICMJE

Not Provided

Investigators ^ICMJE

Principal Investigator:

Edouard Bardou-Jacquet, MD

CHU Rennes

PRS Account

Rennes University Hospital

Verification Date

August 2014

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

To Top