NCT02619955

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2016

Longer than P75 for all trials

Geographic Reach
1 country

9 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 16, 2015

Completed
16 days until next milestone

First Posted

Study publicly available on registry

December 2, 2015

Completed
3 months until next milestone

Study Start

First participant enrolled

March 1, 2016

Completed
6.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2023

Completed
Last Updated

January 18, 2023

Status Verified

January 1, 2023

Enrollment Period

6.8 years

First QC Date

November 16, 2015

Last Update Submit

January 17, 2023

Conditions

Rare Iron Overlaods

Keywords

hepcidin deficiencygeneticexcept C282Y Homozygosity

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (5)

  • comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism

    inclusion

  • Number of patients presenting with associated causes of iron overload

    inclusion

  • Genotype-Phenotype correlation

    Inclusion

  • Hepatic and splenic iron concentration measurements by NMR

    Inclusion

  • Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)

    Inclusion

Study Arms (1)

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

Interventions

samples with DNAOTHER
Rare iron overload with hepcidin deficiency

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients presenting a rare iron overloads with hepcidin deficiency

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

CHU Limoges - Médecine interne A

Limoges, 87042, France

Location

Centre Hospitalier Lyon-Sud

Lyon, 69495, France

Location

CHRU de Montpellier - Hôpital St Eloi

Montpellier, 34295, France

Location

Hôpital Hasenrain

Mulhouse, 68051, France

Location

Hopital E.Muller

Mulhouse, 68070, France

Location

CHR La Source

Orléans, 45067, France

Location

Bardou Jacquet

Rennes, 35000, France

Location

CHU Purpan

Toulouse, 31059, France

Location

Hopital Paul Brousse

Villejuif, 94804, France

Location

MeSH Terms

Interventions

DNA

Intervention Hierarchy (Ancestors)

Nucleic AcidsNucleic Acids, Nucleotides, and Nucleosides

Study Officials

  • Edouard BARDOU-JACQUET, MD/PhD

    CHU Pontchaillou

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 16, 2015

First Posted

December 2, 2015

Study Start

March 1, 2016

Primary Completion

January 1, 2023

Study Completion

January 1, 2023

Last Updated

January 18, 2023

Record last verified: 2023-01

Locations

FR(9)