China Registry for Genetic / Metabolic Liver Diseases

MI-összefoglaló

A vizsgálat saját részvételi feltételeiből. Gép olvasta ki az oldalon álló regiszterszövegből, ezért tévedhet. Hogy ki vehet részt, azt a lenti regiszterszöveg és a vizsgálat csapata dönti el.

The trial is looking for people with a confirmed or possible inherited or metabolic liver disease, seen at hospitals in mainland China. It is a registry that collects health data and blood samples and follows people over time.

Nem

All sexes can join.

A betegség stádiuma

A confirmed or possible diagnosis of Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease, or another genetic/metabolic liver disease.

A részvétel fő kizáró okai

• People who cannot or will not give informed consent cannot join.

A regiszter feltételei, szó szerint

Mit akar kideríteni a vizsgálat

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.

A vizsgálat 5 csoportja

• Wilson's Disease

  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.

  Kezelés: Standard of care

• Hereditary Hemochromatosis

  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.

  Kezelés: Standard of care

• Hereditary Hyperbilirubinemias

  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).

  Kezelés: Standard of care

• Inherited Cholestatic Liver Disease

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

  Kezelés: Standard of care

• Other genetic/metabolic liver diseases

  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.

  Kezelés: Standard of care