Transferrin Saturation and Asthenia in Hemochromatosis (HEMOSAT)

Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis

Observational study.

Study Overview

• Status: Completed
• Conditions: Hemochromatoses, Genetic

Detailed Description

The linked HFE genetic hemochromatosis (C282Y mutation in the homozygous state) is the most common form of genetic iron overload.

Its treatment is based on bloodletting, and takes place in 2 phases, according to the recommendations of the High Authority of Health (HAS). The first phase, called induction, aims to achieve ferritinemia <50 by performing weekly bleeds.

The second phase, called maintenance, aims to maintain this ferritinemia <50 by performing bleeding every 1 to 6 months depending on the case.

The treatment is therefore according to the current recommendations only adapted according to ferritinemia, and not according to the effectiveness on the functional symptoms. However, some patients report persistent asthenia during maintenance treatment, despite ferritin levels <50. This could reflect an incomplete control of their disease, and leads us to raise two points:

• It is known that in some subjects, the Transferrin Saturation Coefficient remains high, despite ferritinemia <50; it is also known that this elevation of the Transferrin Saturation Coefficient may be accompanied by a rise in circulating free iron, which is toxic for the organism1.
• The asthenia observed in some patients in the maintenance phase could be linked to a high rate of Transferrin Saturation Coefficient.

Our objective is to evaluate, in patients homozygous C282Y in maintenance phase, the association between quality of life and Transferrin Saturation Coefficient .

• Study Type: Observational
• Enrollment (Actual): 260

Contacts and Locations

Study Locations

• France
  • Britain
    • Rennes, Britain, France, 35033
      • Rennes University Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with genetic hemochromatosis HFE

Description

• Inclusion criteria:

  • homozygous C282Y ;
  • in the maintenance phase for at least 6 months ;
  • follow-up at Rennes University Hospital ;
  • patient who has not expressed his opposition to participate in the study.

• Exclusion criteria:

  • Permanent: any cause of modification of the CST unrelated to hemochromatosis (chronic inflammatory disease, excessive consumption of alcohol ...) ;
  • Temporary: infectious syndrome within 7 days before bleeding.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Quality of life questionnaire SF 36	Through study completion, an average of 3 months
Biological markers : Transferrin Saturation Coefficient	Through study completion, an average of 3 months

Collaborators and Investigators

• Sponsor: Rennes University Hospital
• Investigators: Principal Investigator: Fabrice LAINE, Rennes University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 10, 2017
• Primary Completion (Actual): April 9, 2019
• Study Completion (Actual): April 9, 2019

Study Registration Dates

• First Submitted: November 16, 2017
• First Submitted That Met QC Criteria: November 28, 2017
• First Posted (Actual): November 29, 2017

Study Record Updates

• Last Update Posted (Actual): July 31, 2019
• Last Update Submitted That Met QC Criteria: July 30, 2019
• Last Verified: July 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Iron Metabolism Disorders; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Iron Overload; Hemochromatosis; Hemosiderosis; Asthenia
• Other Study ID Numbers: 35RC17_3067_HEMOSAT

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No