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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
33
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
Ultrasound is a non-invasive procedure
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.
Department of Hepatology and Gastroenterology, Aarhus University Hospital
Aarhus, Denmark
Measurement of the macrophage activation markers sCD163
For the investigations a total of 100 ml of blood is drawn, all stored in a research biobank.
Time frame: Baseline, 1 year, 2 year, 3 year
Measurement of soluble mannose receptor (sMR)
For the investigations a total of 100 ml of blood is drawn, all stored in a research biobank.
Time frame: Baseline, 1 year, 2 year, 3 year
Urinary copper excretion in 24 hour urine collection
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
Time frame: Baseline, 1 year, 2 year, 3 year
Ultrasound is performed for signs of liver cirrhosis.
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.
Time frame: Baseline, 1 year, 2 year, 3 year
Fibroscan is performed to evaluate liver stiffness (fibrosis)
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.
Time frame: Baseline, 1 year, 2 year, 3 year
Continous Reaction Time to evaluate brain dysfunction
Continous Reaction Time is a computerized 10 minutes test that measures and combines motor reaction speed and sustained attention.
Time frame: Baseline, 1 year, 2 year, 3 year
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Histological disease activity at time of diagnosis evaluating if any liver fibrosis
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
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.
Time frame: Baseline, 1 year, 2 year, 3 year
Histological disease activity at time of diagnosis and liver biopsy, evaluating if any liver fibrosis
Liver fibrosis will be also be determined on liver biopsies.
Time frame: Baseline, 1 year, 2 year, 3 year
Functional hepatic nitrogen clearance to evaluate metabolic liver function
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.
Time frame: Baseline, 1 year, 2 year, 3 year
The Portosystemic Encephalopathy to evaluate brain dysfunction
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).
Time frame: Baseline, 1 year, 2 year, 3 year