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The assumption is that in some of the carriers, the increase in enzymes reflects tissue damage due to excess copper. The reduction of the amount of copper absorbed will decrease excess copper in the liver, which will result in a decrease in the level of liver enzymes. Zinc causes the induction of metalothionines in the intestine, which in turn prevents absorption of copper from the digestive system. Zinc administration in Wilson's patients causes the depletion of copper deposits and constitutes one of the cornerstones in the treatment of this disease.
The research group is composed of patients over the age of 18 referred for unexplained elevation of liver enzymes and carry a single mutation in the ATP7B gene. After a washout period of 3 months these patients will be re-checked for liver enzymes and if high will receive zinc therapy at a dose of 300 mg / day for 6 months, after which the liver enzymes will be checked again.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| unexplained elevation of liver enzymes | Experimental | patients over the age of 18 referred for unexplained elevation of liver enzymes and carry a single mutation in the ATP7B gene. After a washout period of 3 months these patients will be re-checked for liver enzymes and if high will receive zinc therapy at a dose of 300 mg / day for 6 months, after which the liver enzymes will be checked again. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Zinc | Dietary Supplement | blood tests will be performed: GGT SGOT, SGPT, LDH, A.P. Direct and indirect bilirubin, blood proteins, cholesterol, P.T. and a complete blood count. |
|
| Measure | Description | Time Frame |
|---|---|---|
| measurement of liver enzymes in blood tests | A model based on the assumption that at least 50 subjects will be recruited, and assuming that 50% of the patients will have a significant reduction of liver enzymes, is statistically significant and supports the association between a single mutation in the ATP7B gene and liver injury. | 9 months |
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Inclusion Criteria:
patients over the age of 18 unexplained elevation of liver enzymes patients that carry a single mutation in the ATP7B gene.
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Exclusion Criteria:
na
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Elon Pras, Prof | Contact | 972-35302998 | elon.prasProf@sheba.gov.il |
| Name | Affiliation | Role |
|---|---|---|
| Elon Pras, Prof | The Institute of Human Genetics, Sheba Medical Center, Israel | Principal Investigator |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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| ID | Term |
|---|---|
| D015032 | Zinc |
| D006403 | Hematologic Tests |
| ID | Term |
|---|---|
| D019216 | Metals, Heavy |
| D004602 | Elements |
| D007287 | Inorganic Chemicals |
| D028561 | Transition Elements |
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A model based on the assumption that at least 50 subjects will be recruited, and assuming that 50% of the patients will have a significant reduction of liver enzymes
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|
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D008670 |
| Metals |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |