China Registry for Genetic / Metabolic Liver Diseases

Capital Medical University

Status: Enrolling

Conditions: Genetic/Metabolic Liver Diseases

Treatments: Drug: Standard of care

Study type: Observational

Funder types: Other

Identifiers

NCT03131427

CR-GMLD

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 20,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

20,000 participants in 5 patient groups

Wilson's Disease

Description:

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.

Treatment:

Drug: Standard of care

Hereditary Hemochromatosis

Description:

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.

Treatment:

Drug: Standard of care

Hereditary Hyperbilirubinemias

Description:

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).

Treatment:

Drug: Standard of care

Inherited Cholestatic Liver Disease

Description:

Patients who were diagnosed or possibly diagnosed with Inherited cholestatic liver disease, including progressive familial intrahepatic cholestasis(PFIC) and benign recurrent intrahepatic cholestasis(BRIC).

Treatment:

Drug: Standard of care

Other genetic/metabolic liver diseases

Description:

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.

Treatment:

Drug: Standard of care