Clinical trial NCT02619955: Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity
Official title: Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Rare Iron Overlaods
Keywords: hepcidin deficiency
genetic
except C282Y Homozygosity
Lead sponsor: Rennes University Hospital
Sponsor class: OTHER
First posted: 2015-12-02
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients presenting a rare iron overloads with hepcidin deficiency

Brief summary: The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities.

Detailed description: Chronic iron overload are responsible for morbidity and mortality. There are many causes, genetic and acquired. Hepcidin deficiency related to genetic desease is one of them.

This study concerns specifically this cause, and seeks to characterize these iron overloads on clinical, biological, genetic and functional point of view.

A significant number of patients with chronic iron overload, present a phenotype of hepcidin deficiency. This profile is characterized by an elevated plasma iron increased serum transferrin saturation, a transferrin saturation, and a parenchyma distribution of iron overload. These diseases either remains unexplained or are associated with mutations in the gene involved in iron metablism regulation.

The main objective of this study is to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).

Eligibility criteria: Inclusion Criteria:

* Biological profile suggestive of hepcidin deficiency:

  * increase of transferrin saturation coefficient (\> 50 %) verified on at least 2 times, and calculated from the transferrinemia.
  * Proved hepatic iron overload: by the dosage of the iron hepatic concentration either on block hepatic biopsic, or by MRI according to the method of quantification of the iron validated overload (by adopting a threshold of 100 µmol /g)
  * Patient's written consent for examination of genetic characteristics for diagnosis and collection development for genetic and not genetic research within the framework of an abnormality of the iron metabolism
  * Patient written inform consent.

Exclusion Criteria:

* HFE hemochromatosis: homozygosity C282Y/C282Y
* Treatment with iterative phlebotomy
* Hematologic diseases with dyserythropoiesis and/or repeated transfusions
* Haptoglobin low, below normal directing towards the diagnosis of chronic hemolysis, myelodysplasia
* Prolonged oral or parenteral iron supplementation
* Current or past excessive regular drinking
* Patient minor or under legal protection measure

Primary outcomes:
measure: Number of patients presenting with mutation in gene know to be associated with iron metabolism
timeFrame: Inclusion
Secondary outcomes:
measure: comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism
timeFrame: inclusion
measure: Number of patients presenting with associated causes of iron overload
timeFrame: inclusion
measure: Genotype-Phenotype correlation
timeFrame: Inclusion
measure: Hepatic and splenic iron concentration measurements by NMR
timeFrame: Inclusion
measure: Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)
timeFrame: Inclusion
Other outcomes:
Locations:
city: Limoges
country: France
facility: CHU Limoges - Médecine interne A
city: Lyon
country: France
facility: Centre Hospitalier Lyon-Sud
city: Montpellier
country: France
facility: CHRU de Montpellier - Hôpital St Eloi
city: Mulhouse
country: France
facility: Hôpital Hasenrain
city: Mulhouse
country: France
facility: Hopital E.Muller
city: Orléans
country: France
facility: CHR La Source
city: Rennes
country: France
facility: Bardou Jacquet
city: Toulouse
country: France
facility: CHU Purpan
city: Villejuif
country: France
facility: Hopital Paul Brousse
Study officials:
affiliation: CHU Pontchaillou
name: Edouard BARDOU-JACQUET, MD/PhD
role: PRINCIPAL_INVESTIGATOR
References: