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study has ended due to internal changes
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The investigated cohort will examine liver and spleen fibrosis in patients with Gaucher Disease(GD) by using Shear Wave Elastography- SWE to evaluation fibrosis of the tissue and to check the correlation of fibrosis with the biomarkers of disease severity.
To assess liver and spleen stiffness measurement using Shear Wave Elastography-SWE and evaluate liver and spleen fibrosis in patients with Gaucher Disease. To compare the elastography with the biomarkers that taken at the GD haematology clinic and to check the correlation with severity of liver and spleen fibrosis.
SWE is a safe with diagnostic accuracy regarding the liver (& Spleen) fibrosis. Estimating spleen fibrosis is an innovative approach in liver disease and Gaucher.
The evaluation of fibrosis with this relatively new and safe method could avoid complications and invasive procedure in GD patients .
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| Measure | Description | Time Frame |
|---|---|---|
| Shear Wave Elastography of liver to asses liver fibrosis in Gaucher disease patients. | Shear wave elastography(SWE),an ultrasound imaging technique that can produce 2D and 3D images and quantified measurements of tissue stiffness noninvasively. SWE obtained from the right liver lobe for staging liver fibrosis according to Metavir Fibrosis Score with sensitivity86%-98% and specificity 90%-93%. SWE well corelated with Metavir Fibrosis Score which is system used to assess the extent of inflammation and fibrosis by histopathological evaluation in a liver biopsy. The biomarkers of disease severity will be correlated to METAVIR score. METAVIR score(F0-F4) ,Fibrosis Level measured by KPa(kiloPascal) using SWE. F0 = Below 5 KPa, No fibrosis. F1=5.0-7.1 KPa, Mild Fibrosis. F2=7.1-8.7 KPa, Significant Fibrosis. F3=8.7-10.4 KPa, Sever Fibrosis. F4=10.4-19 KPa ,Cirrhosis. SWE can differentiate patients with no or minimal (F0 and F1) fibrosis from those with severe fibrosis or cirrhosis (F3 and F4) with no need for biopsy unless there are other factors that need to be considered. | 0-2 hours |
| Measure | Description | Time Frame |
|---|---|---|
| Shear Wave Elastography of spleen to asses spleen fibrosis in Gaucher disease patients. | Shear wave elastography (SWE), an ultrasound imaging technique that can produce 2D and 3D images and quantified measurements of tissue stiffness noninvasively. Participants with Gaucher disease will under go shear wave elastography for spleen. Ultrasound Elastography is a non-invasive test which uses the technology of Shear Wave Elastography (SWE) obtained from the spleen for staging tissue fibrosis according to a study, Spleen Elastography was performed in 59 healthy individuals and the mean value measured in KPa (kiloPascal) was 16.6 ± 2.5 kPa, independent of patient age, sex or spleen size. above the normal value it is considerd fibrosis of the tisuue of the spleen. |
| Measure | Description | Time Frame |
|---|---|---|
| Biomarkers of the Gaucher Disease | Gaucher Disease (GD) patients will be referred from the (GD) hematology outpatient clinic, in different patients different biomarker are already taken (as blood test). Biochemical abnormalities which might be already taken from patients, for example; blood level of ferritin (unit: ng/mL), angiotensin converting enzyme (unit: kU/L), chitotriosidase (unit: U/L) and polyclonal immunoglobulins (unit: ng/dL) . Elevated biomarkers can predict the severity of the disease. |
Inclusion Criteria:
Exclusion Criteria:
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adult patient with Gaucher disease.
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| Name | Affiliation | Role |
|---|---|---|
| ziv neeman, MD | haemek medical center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| HaEmek Medical Center | Afula | Northern District | 1834111 | Israel |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| D008103 | Liver Cirrhosis |
| D005355 | Fibrosis |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| 0-2 hours |
| Up to 1 month |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |