Clinical trial NCT01541813: Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.
Official title: Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Rare Iron Overloads Except C282Y Homozygosity
Keywords: Rare iron overload
hepcidin
Lead sponsor: Rennes University Hospital
Sponsor class: OTHER
First posted: 2012-03-01
Enrollment: 62
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a rare iron overloads 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.

Eligibility criteria: 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

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Kremlin-Bicêtre
country: France
facility: Kremlin-Bicêtre Hospital
city: Lille
country: France
facility: CHRU - Huriez Hospital
city: Limoges
country: France
facility: Limoges CHU
city: Lyon
country: France
facility: Lyon Sud Hospital
city: Marseille
country: France
facility: Hospital of conception
city: Montpellier
country: France
facility: Saint Eloi Hospital - CHU
city: Mulhouse
country: France
facility: Emilie Muller Hospital
city: Mulhouse
country: France
facility: Hospital Center
city: Orléans
country: France
facility: BP 86709
city: Toulouse
country: France
facility: Purpan CHU
Study officials:
affiliation: CHU Rennes
name: Edouard Bardou-Jacquet, MD
role: PRINCIPAL_INVESTIGATOR
References: