Trial record 9 of 38 for:    "hemochromatosis"

HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by Rennes University Hospital
Sponsor:
Information provided by (Responsible Party):
Rennes University Hospital
ClinicalTrials.gov Identifier:
NCT01784939
First received: January 22, 2013
Last updated: December 24, 2013
Last verified: December 2013
  Purpose

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.


Condition
Hereditary Hemochromatosis C282Y Homozygous

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis

Resource links provided by NLM:


Further study details as provided by Rennes University Hospital:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
    values of Hepcidin / ferritin plasma ratio


Secondary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples Without DNA

Hepcidin serum ferritin serum transferrin serum iron serum


Estimated Enrollment: 35
Study Start Date: February 2013
Estimated Study Completion Date: July 2014
Estimated Primary Completion Date: May 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
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


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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
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,
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Intercurrent illness unrelated to hemochromatosis causing cytolysis or inflammatory reaction.
  • Person with a measure of legal protection (guardianship)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01784939

Contacts
Contact: Caroline Jezequel, MD 0299284297 ext 33 caroline.jezequel@chu-rennes.fr

Locations
France
CHU Recruiting
Rennes, France, 35000
Contact: Caroline Jezequel    0299284297 ext 33    caroline.jezequel@chu-rennes.fr   
Sub-Investigator: Fabrice Lainé, MD         
Sub-Investigator: Martine Ropert, MD         
Sub-Investigator: Yves Deugnier, MD,PhD         
Sponsors and Collaborators
Rennes University Hospital
Investigators
Principal Investigator: Caroline Jezequel, MD CHU Rennes Pontchaillou
  More Information

No publications provided

Responsible Party: Rennes University Hospital
ClinicalTrials.gov Identifier: NCT01784939     History of Changes
Other Study ID Numbers: 2012-A01170-43
Study First Received: January 22, 2013
Last Updated: December 24, 2013
Health Authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé

Keywords provided by Rennes University Hospital:
hereditary hemochromatosis C282Y homozygous
Iron Reabsorption Index (IRI)
Hepcidin / ferritin (H / F) ratio

Additional relevant MeSH terms:
Hemochromatosis
Metal Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Iron Overload
Iron Metabolism Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on July 22, 2014