Active clinical trials for "Hemochromatosis"

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.

OBJECTIVES: To investigate whether respiratory variations of the inferior vena cava (ΔIVC) and internal jugular vein (ΔIJV) diameters during standardized breathing (ΔIVCST and ΔIJVST) increase after a therapeutic bleeding in spontaneously breathing and non-obese patients with genetic hemochromatosis. DESIGN: Prospective, monocentric study in the EFS Nord-de-France blood center. PATIENTS: Non-obese patients with genetic hemochromatosis undergoing a therapeutic bleeding. INTERVENTIONS: Ultrasound measures and collected clinical parameters before and after a therapeutic bleeding, during a standardized respiratory maneuver. MAIN OUTCOME AND MEASURES: The primary endpoint was the ΔIVCST change induced by a 300 to 500ml therapeutic bleeding. It measured the minimal and maximal IVC and IJV diameters during a standardized respiratory maneuver. ΔIVCST and ΔIJVST were calculated as follows: [(maximal diameter - minimal diameter)/maximal diameter].100.

The purpose of this study is to describe bone status on patients with genetic hemochromatosis, at diagnostic time and his evolution under treatment.

This study aims to prospectively assess the repeatability and reproducibility of iron-corrected T1 (cT1), T2*, and hepatic proton density fat fraction (PDFF) quantification with multiparametric MRI using the LiverMultiScan™ (LMS, Perspectum Diagnostics, Oxford, UK) protocol across different field strengths, scanner manufacturers and models.

Patients with hereditary haemochromatosis will be interviewed/questioned about their Quality of life and the delivered quality of care in the hospital.