Trials Sponsors Conditions Drugs Pricing

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

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

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:

Sponsors & Collaborators

Rennes University Hospital
Otherlead

Study Sites (9)

CHU Limoges - Médecine interne A

Limoges, 87042, France

Centre Hospitalier Lyon-Sud

Lyon, 69495, France

CHRU de Montpellier - Hôpital St Eloi

Montpellier, 34295, France

Hôpital Hasenrain

Mulhouse, 68051, France

Hopital E.Muller

Mulhouse, 68070, France

CHR La Source

Orléans, 45067, France

Bardou Jacquet

Rennes, 35000, France

MeSH Terms

Interventions

DNA

Intervention Hierarchy (Ancestors)

Nucleic AcidsNucleic Acids, Nucleotides, and Nucleosides

Study Officials

Edouard BARDOU-JACQUET, MD/PhD
CHU Pontchaillou
PRINCIPAL INVESTIGATOR

Enrollment

60 participants (actual enrollment reported by the registry).

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 2016

Actual (reported)

Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (5)

Study Arms (1)

Rare iron overload with hepcidin deficiency

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (9)

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (5)

Study Arms (1)

Rare iron overload with hepcidin deficiency

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (9)

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations