Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity

Rare Iron Overlaods Clinical Trial

— HEPCICOR  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02619955
• Other study ID #: 35RC14_9841
• Status: Completed
• Start date: March 2016
• Est. completion date: January 2023

Study information

• Verified date: January 2023
• Source: Rennes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 60
• Est. completion date: January 2023
• Est. primary completion date: January 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Rare Iron Overlaods

Intervention

Other:
• samples with DNA

Locations

Country	Name	City	State
France	CHU Limoges - Médecine interne A	Limoges
France	Centre Hospitalier Lyon-Sud	Lyon
France	CHRU de Montpellier - Hôpital St Eloi	Montpellier
France	Hopital E.Muller	Mulhouse
France	Hôpital Hasenrain	Mulhouse
France	CHR La Source	Orléans
France	Bardou Jacquet	Rennes
France	CHU Purpan	Toulouse
France	Hopital Paul Brousse	Villejuif

Sponsors (1)

Lead Sponsor	Collaborator
Rennes University Hospital

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	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
Secondary	Genotype-Phenotype correlation	To Research correlations genotype-phenotype	Inclusion
Secondary	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
Secondary	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