Hereditary Hemochromatosis C282Y HomozygousHEPFERNCT01784939
HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis
An observational study of Hereditary Hemochromatosis C282Y Homozygous, run by Rennes University Hospital at 1 site in France.
Trial summary
HFE(High iron FE)-related hereditary hemochromatosis has a highly variable penetrance. No phenotypic or genetic markers can predict the disease. The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily reabsorbed iron for a subject whose iron stock is stable and less than 50 µg / L. Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Hereditary Hemochromatosis C282Y Homozygous
- How many people
- 31 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2013to Jul 2014
- 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
- Men only
- No healthy volunteers
- Adult, Older adult
Study population: * Men, at least 18 years old * hereditary hemochrmatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes * Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L,
Who may be able to join
- Men, at least 18 years old
- hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes
- Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L,
- Written, free and informed consent
Who cannot join
- Intercurrent illness unrelated to hemochromatosis causing cytolysis or inflammatory reaction.
- Person with a measure of legal protection (guardianship)
Trial locations and contacts
1 site in 1 country.
About this study
HFE(High iron FE)-related hereditary hemochromatosis has a highly variable penetrance. No phenotypic or genetic markers can predict the disease. The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily reabsorbed iron for a subject whose iron stock is stable and less than 50 µg / L.
The IRI is constant over time, reflecting the importance of the underlying functional deficit.
Read more
Hepcidin / ferritin (H / F) ratio may be an independent and constant over time marker of disease stage.No data are available on the validated values of this ratio.
The goal of this project is to determine the intra-individual variations of the H / F ratio over time during maintenance therapy and to assess the correlation with the IRI.
Read the detailed description
HFE-related hereditary hemochromatosis has a highly variable penetrance : 1% of homozygous women and 30% of homozygous men would develop a clinically expressed disease. No predictive phenotypic or genetic markers are available.
The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily amount of reabsorbed iron for a subject whose iron stock is less than 50 µg / L and stabilized with maintenance phlebotomy.
For one patient, the IRI is constant over time, probably related to the functional deficit underlying. Unfortunately, IRI is a retrospective marker requiring at least one year of treatment, which limits its practical interest and directs its use for research activity.
We're looking for a more simple phenotypic marker readily available in clinical practice, which would predict at the time of diagnosis the evolution of the disease and therefore would better define the therapeutic options.
The pathophysiology of hemochromatosis is a dysregulation of hepcidin synthesis. We assume that hepcidin / ferritin ratio could be a phenotypic marker like the IRI, stage disease independent and constant over time. Indeed H/F ratio may reflect the adaptability of hepcidin production regulation for a level of iron stock No data are available on the validated values of this ratio. The aim of the project is to determine the intra-individual variations of the H / F ratio over time during maintenance therapy and to assess the correlation with the IRI.
The study involve 30 C282Y homozygous men, followed in a reference center with phlebotomy maintenance therapy and stabilized at a low level of ferritin (<50 µg / L) for at least 1 year.
The intra-individual variation of H/F ration will be determine by 5 samples every 14 days for 8 weeks. The correlation with IRI will be validated externally by the iron load observed at diagnosis. We will take into account other known variation factors like liver damages associated with hemochromatosis at diagnosis.
- Keywords
- hereditary hemochromatosis C282Y homozygous, Iron Reabsorption Index (IRI), Hepcidin / ferritin (H / F) ratio
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| HEPFER cohort | male, aged 18 and over, hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes - Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L |
What is being measured
The primary outcome is the main question the study is designed to answer.
distribution of values of Hepcidin / ferritin plasma ratio
values of Hepcidin / ferritin plasma ratio
Measured: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Secondary outcomes (3)
Correlation between Hepcidin / ferritin plasma ratio and IRI.
Measured: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Correlation between Hepcidin / Ferritin ratio before and after treatment
Measured: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Distribution of inter-individual Hepcidin / Ferritin ratio according to the stage of liver fibrosis
Measured: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2013 (estimated)
- Study startFeb 2013
- Primary completionJul 2014
- Study completionJul 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Hemochromatosis C282Y HomozygousStudies 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
- 31 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Caroline Jezequel, MD, Principal investigator, CHU Rennes Pontchaillou
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01784939
- Sponsor's protocol ID
- 2012-A01170-43
- Acronym
- HEPFER
- Status last verified
- Jul 2014
- First submitted
- 22 Jan 2013
- Last updated
- 24 Jul 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jul 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis
- ClinicalTrials.gov ID
- NCT01784939
- Acronym / sponsor ID
- HEPFER / 2012-A01170-43
- Keywords
- hereditary hemochromatosis C282Y homozygous, Iron Reabsorption Index (IRI), Hepcidin / ferritin (H / F) ratio
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 31 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- Feb 2013
- Primary completion
- Jul 2014 (actual)
- Study completion
- Jul 2014 (actual)
- First posted
- 6 Feb 2013 (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.
HFE(High iron FE)-related hereditary hemochromatosis has a highly variable penetrance. No phenotypic or genetic markers can predict the disease. The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily reabsorbed iron for a subject whose iron stock is stable and less than 50 µg / L.
The IRI is constant over time, reflecting the importance of the underlying functional deficit.
Hepcidin / ferritin (H / F) ratio may be an independent and constant over time marker of disease stage.No data are available on the validated values of this ratio.
The goal of this project is to determine the intra-individual variations of the H / F ratio over time during maintenance therapy and to assess the correlation with the IRI.
Detailed description
HFE-related hereditary hemochromatosis has a highly variable penetrance : 1% of homozygous women and 30% of homozygous men would develop a clinically expressed disease. No predictive phenotypic or genetic markers are available.
The Iron Reabsorption Index (IRI), recently described by our group, correspond to the daily amount of reabsorbed iron for a subject whose iron stock is less than 50 µg / L and stabilized with maintenance phlebotomy.
For one patient, the IRI is constant over time, probably related to the functional deficit underlying. Unfortunately, IRI is a retrospective marker requiring at least one year of treatment, which limits its practical interest and directs its use for research activity.
We're looking for a more simple phenotypic marker readily available in clinical practice, which would predict at the time of diagnosis the evolution of the disease and therefore would better define the therapeutic options.
The pathophysiology of hemochromatosis is a dysregulation of hepcidin synthesis. We assume that hepcidin / ferritin ratio could be a phenotypic marker like the IRI, stage disease independent and constant over time. Indeed H/F ratio may reflect the adaptability of hepcidin production regulation for a level of iron stock No data are available on the validated values of this ratio. The aim of the project is to determine the intra-individual variations of the H / F ratio over time during maintenance therapy and to assess the correlation with the IRI.
The study involve 30 C282Y homozygous men, followed in a reference center with phlebotomy maintenance therapy and stabilized at a low level of ferritin (<50 µg / L) for at least 1 year.
The intra-individual variation of H/F ration will be determine by 5 samples every 14 days for 8 weeks. The correlation with IRI will be validated externally by the iron load observed at diagnosis. We will take into account other known variation factors like liver damages associated with hemochromatosis at diagnosis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| HEPFER cohort | – | –male, aged 18 and over, hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes - Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L |
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- * Men, at least 18 years old * hereditary hemochrmatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes * Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L,
Key inclusion criteria (4 listed)
- Men, at least 18 years old
- hereditary hemochromatosis C282Y homozygous diagnosed and followed in the service of Liver Diseases, University Hospital of Rennes
- Maintenance therapy with phlebotomy for at least 1 year with stable iron stock on the basis of at least four previous plasma ferritin < 50μg / L,
- Written, free and informed consent
Key exclusion criteria (2 listed)
- Intercurrent illness unrelated to hemochromatosis causing cytolysis or inflammatory reaction.
- Person with a measure of legal protection (guardianship)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
distribution of values of Hepcidin / ferritin plasma ratio
Time frame: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
values of Hepcidin / ferritin plasma ratio
3 secondary outcomes
Correlation between Hepcidin / ferritin plasma ratio and IRI.
Time frame: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Correlation between Hepcidin / Ferritin ratio before and after treatment
Time frame: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
Distribution of inter-individual Hepcidin / Ferritin ratio according to the stage of liver fibrosis
Time frame: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time
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 24 Jul 2014.
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.
Caroline Jezequel, MD principal investigator
CHU Rennes Pontchaillou
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Hemochromatosis C282Y Homozygous, run by Rennes University Hospital at 1 site 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 4 inclusion and 2 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 24 Jul 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
distribution of values of Hepcidin / ferritin plasma ratio (time frame: First dosage on an empty stomach at current time of phlebotomy (Day 0), second dosage at day 14 at the same time, third dosage at day 28 at the same time, fourth dosage at day 42 at the same time, fifth dosage at day 56 at the same time). 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 24 Jul 2014.