China Registry for Genetic / Metabolic Liver Diseases

Study Overview
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Brief Summary
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CR-GMLD registry started on June 13, 2015 to collect cases of genetic/metabolic liver diseases from tertiary or secondary hospitals in mainland China. Demographics, diagnosis, laboratory test results, family history and prescriptions were recorded. Patients' whole blood and serum were collected for genetic testing and future researches. These patients will be followed-up every six to twelve months.

Detailed Description
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This web-based database was launched on June 13, 2015 and consists of tertiary or secondary hospitals with special interest and expertise on managing genetic/metabolic liver diseases patients across mainland China. The main inclusion criteria for this registration are patients who were diagnosed or possibly diagnosed with Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease or other genetic/metabolic liver diseases. At the first time of data entry, demographics, medical history, biochemistry and hematology results, radiology reports, diagnosis and treatment information were recorded. Patients' whole blood and serum were collected for molecular genetic testing and future researches. Then the registered patients will receive standard of care and be followed-up every 6 to 12 months. On each visit, biochemical, radiological reports, as well as clinical progress were recorded.

Official Title
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A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases

Conditions
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Genetic/Metabolic Liver Diseases

Intervention / Treatment
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* Drug: Standard of care


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients who were diagnosed or possibly diagnosed with Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease or other genetic/metabolic liver diseases. Exclusion Criteria: Patients who are unable or unwilling to provide informed consent.
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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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Wilson's Disease<br>Patients who were diagnosed or possibly diagnosed with Wilson's disease. The diagnosis can be made or possibly made on the basis of Wilson's disease scoring system proposed by the Working Party at the 8th International Meeting on Wilson's disease, Leipzig 2001. | Drug: Standard of care<br>* Standard of care according to the updated national and/or international guidelines<br>|
| Hereditary Hemochromatosis<br>Hereditary hemochromatosis can be clinically diagnosed if: ① transferrin saturation≥45% and/or elevated ferritin; ② iron overload in liver and/or spleen on magnetic resonance imaging (MRI) of liver or on liver histology; ③ exclude causes of secondary iron overload, such as alcoholic or other chronic liver disease, iron-overloading anemia, and parenteral iron overload. | Drug: Standard of care<br>* Standard of care according to the updated national and/or international guidelines<br>|
| Hereditary Hyperbilirubinemias<br>Hereditary hyperbilirubinemias involve four syndromes: Gilbert, Crigler-Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated hyperbilirubinemia and the second two by conjugated hyperbilirubinemia. Diagnosis of hereditary hyperbilirubinemia should exclude other causes of hyperbilirubinemia, such as obstructive bile duct (slerosing cholangitis, calculi, parasites), intrahepatic cholestasis(drugs, hepatitis, immune-mediated, infectious), acute or chronic hepatocellular injury(sepsis, parenteral nutrition, severe blood loss/hypotension, trauma, conjestive heart failure), increased bilirubin production(hemolysis, hematological disease), decreased bilirubin uptake (drugs, portosystemic shunting ), reduced conjugation activity (neonatal, thyroid disease, chronic hepatitis/inflammation, wilson's disease). | Drug: Standard of care<br>* Standard of care according to the updated national and/or international guidelines<br>|
| Inherited Cholestatic Liver Disease<br>Patients who were diagnosed or possibly diagnosed with Inherited cholestatic liver disease, including progressive familial intrahepatic cholestasis(PFIC) and benign recurrent intrahepatic cholestasis(BRIC). | Drug: Standard of care<br>* Standard of care according to the updated national and/or international guidelines<br>|
| Other genetic/metabolic liver diseases<br>Patients who were diagnosed or possibly diagnosed with genetic/metabolic liver diseases except for Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias or inherited cholestatic liver disease. | Drug: Standard of care<br>* Standard of care according to the updated national and/or international guidelines<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| rate of liver-related events of each disease. | Rates of cirrhosis, decompensation and hepatocellular carcinoma. | 10 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype profile in Chinese patients of each disease |  | 10 years | 
| Natural history of Chinese patients with each disease of different genotype |  | 10 years | 
| Causes of death in Chinese patients of each disease |  | 10 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Genetic Testing, Wilson's Disease, Hereditary Hemochromatosis, Hereditary Hyperbilirubinemias, Inherited Cholestatic Liver Disease