Transferrin Saturation and Asthenia in Hemochromatosis

Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03356548

Acronym

HEMOSAT

Enrollment

260

Registered

2017-11-29

Start date

2017-04-10

Completion date

2019-04-09

Last updated

2019-07-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hemochromatoses, Genetic

Brief summary

Observational study.

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 .

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

* 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.

Design outcomes

Primary

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

Countries

France

Outcome results