Wilsons Disease
Conditions
Keywords
sCD163, liver cirrhosis, disease severity
Brief summary
The aim is to investigate macrophage activation markers and correlations to liver fibrosis in patients with Wilsons Disease. Researchers wish to investigate associations to neurologic and metabolic liver function. Researchers will assess this by comparing blood samples with fibrosis and liver function analyses. This study provides new insight into macrophages and their involvement in Wilsons Disease.
Interventions
PROCEDUREFibroscan
Liver fibrosis will be determined using fibroscan, and reported as changes in the amount of fibrosis in the liver. The fibroscan is a non-invasive procedure
PROCEDUREUltrasound
Ultrasound is a non-invasive procedure
DRUGGalactose
Galactose elimination capacity is performed to evaluate metabolic liver function. The metabolic liver function test galactose elimination capacity requires a 6-hour fast, the infusion of galactose, blood sampling from the ear lobe, and collection of urine for 4 hours.
PROCEDURELiver biopsy
Histological disease activity at time of diagnosis evaluating if any liver fibrosis
PROCEDUREFunctional hepatic nitrogen clearance
Functional hepatic nitrogen clearance to evaluate metabolic liver function Functional hepatic nitrogen clearance requires a 12-hour fast, two venflons, the infusion of alanine, and urine sampling for 4 hours
Sponsors
Aarhus University Hospital
University of Aarhus
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
No
Inclusion criteria
* diagnosed with Wilsons disease
Exclusion criteria
\-
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of the macrophage activation markers sCD163 | Baseline, 1 year, 2 year, 3 year | For the investigations a total of 100 ml of blood is drawn, all stored in a research biobank. |
| Measurement of soluble mannose receptor (sMR) | Baseline, 1 year, 2 year, 3 year | For the investigations a total of 100 ml of blood is drawn, all stored in a research biobank. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Histological disease activity at time of diagnosis and liver biopsy, evaluating if any liver fibrosis | Baseline, 1 year, 2 year, 3 year | Liver fibrosis will be also be determined on liver biopsies. |
| Urinary copper excretion in 24 hour urine collection | Baseline, 1 year, 2 year, 3 year | The patient collects urine for 24 hours at home in a designated container, which is handed out at the department. The container is kept refrigerated and is brought to the control |
| Ultrasound is performed for signs of liver cirrhosis. | Baseline, 1 year, 2 year, 3 year | Ultrasound is a non-invasive procedure. Signs og liver cirrhosis by ultrasound are surface modularity, a smaller liver, heterogeneous echo texture and signs of portal hypertension. |
| Continous Reaction Time to evaluate brain dysfunction | Baseline, 1 year, 2 year, 3 year | Continous Reaction Time is a computerized 10 minutes test that measures and combines motor reaction speed and sustained attention. |
| Functional hepatic nitrogen clearance to evaluate metabolic liver function | Baseline, 1 year, 2 year, 3 year | Functional hepatic nitrogen clearancerequires a 12-hour fast, two venflons, the infusion of alanine, and urine sampling for 4 hours. It evaluates the metabolic liver function by measuring the clearance of alanine from blod by analyzing the amount og urea in the urine collected 4 hours after the start og the alanine infusion. |
| The Portosystemic Encephalopathy to evaluate brain dysfunction | Baseline, 1 year, 2 year, 3 year | The Portosystemic Encephalopathy test is a 15-minute paper-pencil test battery comprised of 5 sub-tests: Digit Symbol test (DST), Number Connection Test A (NCT-A), Number Connection Test B (NCT-B), Serial Dotting Test (SDOT), and Line Tracing Test (LTT, time and errors). |
| Fibroscan is performed to evaluate liver stiffness (fibrosis) | Baseline, 1 year, 2 year, 3 year | Liver fibrosis will be determined using fibroscan, and reported as changes in the amount of fibrosis in the liver. The fibroscan is a non-invasive procedure. |
| Galactose elimination capacity is performed to evaluate metabolic liver function | Baseline, 1 year, 2 year, 3 year | The metabolic liver function test Galactose elimination capacity requires a 6-hour fast, the infusion of galactose, blood sampling from the ear lobe, and collection of urine for 4 hours. |
Countries
Denmark
Outcome results
None listed