Gaucherdisease and glucocerebrosidase deficiency
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
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
Exclusion criteria: none
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Hepcidin in urine (SELDI-TOF MS) Pro-hepcidin in blood (ELISA) | — |
Secondary
| Measure | Time frame |
|---|---|
| In blood: sedimentation rate of erythrocytes, C-reactive protein, white blood count, creatinin, iron, ferritin, hemoglobin, erythrocyes MCV and total-iron-binding-capacity. In urine: hepcidin (SELDI-TOF MS) and creatinin. | — |
Countries
Netherlands