Rare Iron OverlaodsHEPCICORNCT02619955
Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity
An observational study of Rare Iron Overlaods, run by Rennes University Hospital at 9 sites in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Rare Iron Overlaods
- What is being tested?
- samples with DNA
- How many people
- 60 participants
- Where
- 9 sitesFrance
- Study dates
- Mar 2016to Jan 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients presenting a rare iron overloads with hepcidin deficiency
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
France9 sites
CHU Limoges - Médecine interne A
Limoges, 87042
Centre Hospitalier Lyon-Sud
Lyon, 69495
CHRU de Montpellier - Hôpital St Eloi
Montpellier, 34295
Hôpital Hasenrain
Mulhouse, 68051
Hopital E.Muller
Mulhouse, 68070
CHR La Source
Orléans, 45067
Bardou Jacquet
Rennes, 35000
CHU Purpan
Toulouse, 31059
Hopital Paul Brousse
Villejuif, 94804
About this study
Official title: 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.
Read the 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).
- Conditions
- Rare Iron Overlaods
- Being tested
- samples with DNA
- Keywords
- hepcidin deficiency, genetic, except C282Y Homozygosity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
samples with DNAOther
| Study group | Role | What they receive |
|---|---|---|
| Rare iron overload with hepcidin deficiency | clinical, biological, and genetic analysis of rare iron overlaod phenotype (except C282Yhomozygisity), samples with DNA Receives: Other: samples with DNA |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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
To Identificate potential explanatory factors of hepcidino deficiency phenotype
Measured: 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)
Measured: inclusion
Genotype-Phenotype correlation
To Research correlations genotype-phenotype
Measured: 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
Measured: 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
Measured: Inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2015 (estimated)
- Study startMar 2016
- Primary completionJan 2023
- Study completionJan 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Iron OverlaodsStudies of the same condition, open and under way.
- More trials run by Rennes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Edouard BARDOU-JACQUET, MD/PhD, Principal investigator, CHU Pontchaillou
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02619955
- Sponsor's protocol ID
- 35RC14_9841
- Acronym
- HEPCICOR
- Status last verified
- Jan 2023
- First submitted
- 16 Nov 2015
- Last updated
- 18 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hepcicor Cohort : Clinical, Biological, Genetic and Fonctional charactérization of Rare Iron Overlaod phénotypes Associated With Hepcidin Deficiency Excluding C282Y Homozygosity
- ClinicalTrials.gov ID
- NCT02619955
- Acronym / sponsor ID
- HEPCICOR / 35RC14_9841
- Conditions
- Rare Iron Overlaods
- Keywords
- hepcidin deficiency, genetic, except C282Y Homozygosity
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- Mar 2016 (actual)
- Primary completion
- Jan 2023 (actual)
- Study completion
- Jan 2023 (actual)
- First posted
- 2 Dec 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rare iron overload with hepcidin deficiency | – | Other: samples with DNAclinical, biological, and genetic analysis of rare iron overlaod phenotype (except C282Yhomozygisity), samples with DNA |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients presenting a rare iron overloads with hepcidin deficiency
Key inclusion criteria (5 listed)
- Biological profile suggestive of hepcidin deficiency:
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| samples with DNA | Other | Rare iron overload with hepcidin deficiency |
Primary outcome
Number of patients presenting with mutation in gene know to be associated with iron metabolism
Time frame: Inclusion
to characterize these iron overloads with phenotype of hepcidin deficiency not related to homozygosity C282Y (clinical, biological and genetic).
5 secondary outcomes
comparison of the hepcidin and hepcidin/ferritin ratio in patient with or without in gene known to be associated with iron metabolism
Time frame: inclusion
Number of patients presenting with associated causes of iron overload
Time frame: inclusion
Genotype-Phenotype correlation
Time frame: Inclusion
Hepatic and splenic iron concentration measurements by NMR
Time frame: Inclusion
Number of patients with detectable abnormal iron species in blood (non transferrin bound iron, labile pool iron)
Time frame: Inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jan 2023.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Edouard BARDOU-JACQUET, MD/PhD principal investigator
CHU Pontchaillou
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Iron Overlaods, run by Rennes University Hospital at 9 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jan 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients presenting with mutation in gene know to be associated with iron metabolism (time frame: Inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jan 2023.