Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization. (HEPCIDEF)

Tracking Information
First Submitted Date	February 24, 2012
First Posted Date	March 1, 2012
Last Update Posted Date	March 10, 2015
Study Start Date	March 2011
Actual Primary Completion Date	August 2014 (Final data collection date for primary outcome measure)
Current Primary Outcome Measures	Not Provided
Original Primary Outcome Measures	Not Provided
Change History	Complete list of historical versions of study NCT01541813 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures	Not Provided
Original Secondary Outcome Measures	Not Provided
Current Other Outcome Measures	Not Provided
Original Other Outcome Measures	Not Provided
Descriptive Information
Brief Title	Rare Iron Overloads Except C282Y Homozygosity : Description and Characterization.
Official Title	Clinical, Biological, Genetic and Functional Characterization of Rare Iron Overload Phenotypes Associated With Hepcidin Deficiency Except C282Y Homozygosity.
Brief 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. 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 Type	Observational
Study Design	Observational Model: Cohort; Time Perspective: Prospective
Target Follow-Up Duration	Not Provided
Biospecimen	Not Provided
Sampling Method	Non-Probability Sample
Study Population	Patients with a rare iron overloads except C282Y homozygosity.
Condition	Rare Iron Overloads Except C282Y Homozygosity
Intervention	Not Provided
Study Groups/Cohorts	iron overloads except C282Y homozygosity; Patients with an iron overloads except C282Y homozygosity
Publications *	Not Provided
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status	Terminated
Actual Enrollment; (submitted: August 11, 2014)	62
Original Estimated Enrollment; (submitted: February 29, 2012)	200
Actual Study Completion Date	December 2014
Actual Primary Completion Date	August 2014 (Final data collection date for primary outcome measure)
Eligibility Criteria	Inclusion criteria: 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: 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
Sex/Gender	Sexes Eligible for Study: All
Ages	Child, Adult, Senior
Accepts Healthy Volunteers	No
Contacts	Contact information is only displayed when the study is recruiting subjects
Listed Location Countries	France
Removed Location Countries
Administrative Information
NCT Number	NCT01541813
Other Study ID Numbers	Afssaps 201O-A00866-33
Has Data Monitoring Committee	Not Provided
U.S. FDA-regulated Product	Not Provided
IPD Sharing Statement	Not Provided
Responsible Party	Rennes University Hospital
Study Sponsor	Rennes University Hospital
Collaborators	Not Provided
Investigators	Principal Investigator: Edouard Bardou-Jacquet, MD CHU Rennes
PRS Account	Rennes University Hospital
Verification Date	August 2014