Rare Iron Overloads Except C282Y HomozygosityHEPCIDEFNCT01541813
Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.
An observational study of Rare Iron Overloads Except C282Y Homozygosity, run by Rennes University Hospital at 10 sites in France.
Trial summary
Chronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Iron Overloads Except C282Y Homozygosity
- How many people
- 62 participants
- Where
- 10 sitesFrance
- Study dates
- Mar 2011to Dec 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a rare iron overloads except C282Y homozygosity.
Who may be able to join
- Biological profile suggesting hepcidin deficiency:
- high serum iron (> 25μmol / l) checked at least 2 times.
- increased transferrin saturation coefficient (> 50 %) checked at least 2 times, and calculated from transferrinemia.
- Proved hepatic iron overload: using a dosage of iron hepatic concentration either on hepatic biopsy, or by MRI according to the method of iron overload quantification. A threshold of 100 µmol / g is set.
- Patient's written consent for examination and collection of genetic data to set the diagnosis.
- Non inclusion criteria:
Show all 11Show fewer
- HFE hemochromatosis: C282Y/C282Y homozygosity
- Treatment by iterative phlebotomies (more than 2 phlebotomies)
- Hematological diseases with dyserythropoiesis and/or repeated transfusions
- Low haptoglobin level, suggesting chronic hemolysis or myelodysplasia
- Long-term iron oral and/or parenteral supplementation
Who cannot join
None listed.
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
France10 sites
Kremlin-Bicêtre Hospital
Le Kremlin-Bicêtre, 94270
CHRU - Huriez Hospital
Lille, 59037
Limoges CHU
Limoges, 87042
Lyon Sud Hospital
Lyon, 69945
Hospital of conception
Marseille, 13385
Saint Eloi Hospital - CHU
Montpellier, 34295
Emilie Muller Hospital
Mulhouse, 68070
Hospital Center
Mulhouse, 68070
BP 86709
Orléans, 45067
Purpan CHU
Toulouse, 31059
About this study
Official title: Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Chronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. The study explores this specific cause, and aim to characterize this iron overload in term of clinical, biological, genetic and functional specificities.
Read the detailed description
One of chronic iron overload profiles is a deficit in hepcidin. Hepcidin is the regulating hormone for iron. This specific profile is characterized by an elevated serum iron, an elevated transferrin saturation, and parenchymal damages of iron overload. This disease is not connected with known mutations of iron metabolism genes.
The main objective of this study is the clinical, biological, genetic and functional characterization of rare iron overload phenotypes associated with hepcidin deficiency except C282Y homozygosity.
- Keywords
- Rare iron overload, hepcidin
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 |
|---|---|---|
| iron overloads except C282Y homozygosity | Patients with an iron overloads except C282Y homozygosity |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Mar 2012 (estimated)
- Study startMar 2011
- Primary completionAug 2014
- Study completionDec 2014
Why it stopped: rare overload and low recruitment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Iron Overloads Except C282Y HomozygosityStudies 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
- 62 participants (actual)
Sponsor and investigators
- Lead sponsor
- Rennes University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Edouard Bardou-Jacquet, MD, Principal investigator, Rennes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01541813
- Sponsor's protocol ID
- Afssaps 201O-A00866-33
- Acronym
- HEPCIDEF
- Status last verified
- Aug 2014
- First submitted
- 24 Feb 2012
- Last updated
- 10 Mar 2015
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
- ClinicalTrials.gov ID
- NCT01541813
- Acronym / sponsor ID
- HEPCIDEF / Afssaps 201O-A00866-33
- Keywords
- Rare iron overload, hepcidin
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: rare overload and low recruitment
- Enrolment
- 62 participants (actual)
- Lead sponsor
- Rennes University HospitalUniversity, hospital or other
- Study start
- Mar 2011
- Primary completion
- Aug 2014 (actual)
- Study completion
- Dec 2014 (actual)
- First posted
- 1 Mar 2012 (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.
Chronic iron overload is responsible for morbidity and mortality. There are many genetic and acquired causes. One of them is an hepcidin deficiency. Hepcidin is the regulating hormone for iron. The study explores this specific cause, and aim to characterize this iron overload in term of clinical, biological, genetic and functional specificities.
Detailed description
One of chronic iron overload profiles is a deficit in hepcidin. Hepcidin is the regulating hormone for iron. This specific profile is characterized by an elevated serum iron, an elevated transferrin saturation, and parenchymal damages of iron overload. This disease is not connected with known mutations of iron metabolism genes.
The main objective of this study is the clinical, biological, genetic and functional characterization of rare iron overload phenotypes associated with hepcidin deficiency except C282Y homozygosity.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| iron overloads except C282Y homozygosity | – | –Patients with an iron overloads except C282Y homozygosity |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a rare iron overloads except C282Y homozygosity.
Key inclusion criteria (11 listed)
- Biological profile suggesting hepcidin deficiency:
- Proved hepatic iron overload: using a dosage of iron hepatic concentration either on hepatic biopsy, or by MRI according to the method of iron overload quantification. A threshold of 100 µmol / g is set.
- Patient's written consent for examination and collection of genetic data to set the diagnosis.
- HFE hemochromatosis: C282Y/C282Y homozygosity
- Treatment by iterative phlebotomies (more than 2 phlebotomies)
Key exclusion criteria (0 listed)
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
Not reported in the source record.
Results and safety
The study was stopped early (reason given: rare overload and low recruitment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2015.
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 principal investigator
Rennes University Hospital
10 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 Overloads Except C282Y Homozygosity, run by Rennes University Hospital at 10 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 11 inclusion and 0 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: stopped early, as of the sponsor's last update on 10 Mar 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 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 was stopped early (reason given: rare overload and low recruitment). Results are not available in the source record.
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.
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 10 Mar 2015.