Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.

Rare Iron Overloads Except C282Y Homozygosity Clinical Trial

— HEPCIDEF  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01541813
• Other study ID #: Afssaps 201O-A00866-33
• Status: Terminated
• Phase: N/A
• First received: February 24, 2012
• Last updated: March 9, 2015
• Start date: March 2011
• Est. completion date: December 2014

Study information

• Verified date: August 2014
• Source: Rennes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)France : CCTIRS
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 62
• Est. completion date: December 2014
• Est. primary completion date: August 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Iron Overload
• Rare Iron Overloads Except C282Y Homozygosity

Locations

Country	Name	City	State
France	Kremlin-Bicêtre Hospital	Kremlin-Bicêtre
France	CHRU - Huriez Hospital	Lille
France	Limoges CHU	Limoges
France	Lyon Sud Hospital	Lyon
France	Hospital of conception	Marseille
France	Saint Eloi Hospital - CHU	Montpellier
France	Emilie Muller Hospital	Mulhouse
France	Hospital Center	Mulhouse
France	BP 86709	Orléans
France	Purpan CHU	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
Rennes University Hospital

Country where clinical trial is conducted

France,