A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease

Conditions
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Wilson Disease

Intervention / Treatment
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* Dietary Supplement: Zinc


Participation Criteria
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Eligibility Criteria
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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. - Exclusion Criteria: na

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Interventional Model Description: 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
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: unexplained elevation of liver enzymes<br>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. | Dietary Supplement: Zinc<br>* 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.<br>* Other names: blood tests;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 |