pro-hepcidin and hepcidin levels in blood and urine of Gaucher patients in relation to iron homeostasis.

• Conditions: Gaucherdisease and glucocerebrosidase deficiency; 10027424

• Registration Number: NL-OMON30063
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 18 June 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 60

Inclusion Criteria

-Patients, older than 18 years, with proven GD I, as evidenced by decreased plasma glucocerebrosidase activity or genotyping.
-Controls, older than 18 years with a normal total iron binding capacity in blood.
-Patients with proven Hematochromatosis as evidenced by total iron bindingcapacity of > 45% in blood or genotyping.
-Patients and controls have to provide written informed consent to participate in the study.

Exclusion Criteria

none

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Hepcidin in urine (SELDI-TOF MS)<br /><br>Pro-hepcidin in blood (ELISA)</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>In blood: sedimentation rate of erythrocytes, C-reactive protein, white blood<br /><br>count, creatinin, iron, ferritin, hemoglobin, erythrocyes MCV and<br /><br>total-iron-binding-capacity.<br /><br>In urine: hepcidin (SELDI-TOF MS) and creatinin.</p><br>