Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity (HEPCICOR)

Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity

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.

Study Overview

• Status: Completed
• Conditions: Rare Iron Overlaods
• Intervention / Treatment: Other: samples with DNA

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).

• Study Type: Observational
• Enrollment (Actual): 60

Contacts and Locations

Study Locations

• France
  • Limoges, France, 87042
    • CHU Limoges - Médecine interne A
  • Lyon, France, 69495
    • Centre hospitalier Lyon-Sud
  • Montpellier, France, 34295
    • CHRU de Montpellier - Hôpital St Eloi
  • Mulhouse, France, 68051
    • Hôpital Hasenrain
  • Mulhouse, France, 68070
    • Hopital E.Muller
  • Orléans, France, 45067
    • CHR la Source
  • Rennes, France, 35000
    • Bardou Jacquet
  • Toulouse, France, 31059
    • CHU Purpan
  • Villejuif, France, 94804
    • Hopital Paul Brousse

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients presenting a rare iron overloads with hepcidin deficiency

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Rare iron overload with hepcidin deficiency; clinical, biological, and genetic analysis of rare iron overlaod phenotype (except C282Yhomozygisity), samples with DNA	Other: samples with DNA

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients presenting with mutation in gene know to be associated with iron metabolism	to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).	Inclusion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism	To Identificate potential explanatory factors of hepcidino deficiency phenotype	inclusion
Number of patients presenting with associated causes of iron overload	- Identification of potentially explanatory factors visceral consequences of iron overload in hepcidino deficiency phenotype (overweight, high blood pressure, diabetes)	inclusion
Genotype-Phenotype correlation	To Research correlations genotype-phenotype	Inclusion
Hepatic and splenic iron concentration measurements by NMR	Validation of the hepatic iron concentration measurements imaging ( nuclear magnetic resonance (NMR)) in the various centers	Inclusion
Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)	- Assessment of the clinical value of biomarkers of iron metabolism	Inclusion

Collaborators and Investigators

• Sponsor: Rennes University Hospital
• Investigators: Principal Investigator: Edouard BARDOU-JACQUET, MD/PhD, CHU Pontchaillou

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2016
• Primary Completion (Actual): January 1, 2023
• Study Completion (Actual): January 1, 2023

Study Registration Dates

• First Submitted: November 16, 2015
• First Submitted That Met QC Criteria: November 30, 2015
• First Posted (Estimate): December 2, 2015

Study Record Updates

• Last Update Posted (Actual): January 18, 2023
• Last Update Submitted That Met QC Criteria: January 17, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Keywords: genetic; hepcidin deficiency; except C282Y Homozygosity
• Other Study ID Numbers: 35RC14_9841