Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
20000 participants
OBSERVATIONAL
2015-06-13
2027-04-28
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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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.
Standard of care
Standard of care according to the updated national and/or international guidelines
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.
Standard of care
Standard of care according to the updated national and/or international guidelines
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).
Standard of care
Standard of care according to the updated national and/or international guidelines
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).
Standard of care
Standard of care according to the updated national and/or international guidelines
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.
Standard of care
Standard of care according to the updated national and/or international guidelines
Interventions
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Standard of care
Standard of care according to the updated national and/or international guidelines
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
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Beijing YouAn Hospital
OTHER
Henan Provincial People's Hospital
OTHER
Beijing Ditan Hospital
OTHER
Hebei Medical University Third Hospital
OTHER
Peking University First Hospital
OTHER
Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
UNKNOWN
Nanfang Hospital, Southern Medical University
OTHER
Logistics University of Chinese People's Armed Police Forces
OTHER
Beijing Anzhen Hospital
OTHER
West China Second University Hospital
OTHER
Jinshan Hospital Fudan University
OTHER
Fudan University
OTHER
Beijing Friendship Hospital
OTHER
Responsible Party
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Jidong Jia
Liver Research Center
Principal Investigators
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Jidong Jia, Doctor
Role: PRINCIPAL_INVESTIGATOR
Beijing Friendship Hospital
Locations
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Beijing Ditan Hospital
Beijing, Beijing Municipality, China
Beijing Anzhen Hospital, Capital Medical University
Beijing, Beijing Municipality, China
Peking University First Hospital
Beijing, Beijing Municipality, China
Beijing YouAn Hospital
Beijing, Beijing Municipality, China
Nanfang Hospital of Southern Medical University
Guangzhou, Guangdong, China
Hebei Medical University Third Hospital
Shijiazhuang, Hebei, China
Henan Provincial Hospital
Zhengzhou, Henan, China
Zhongshan Hospital, Fudan University
Shanghai, Shanghai Municipality, China
Jinshan Hospital of Fudan University
Shanghai, Shanghai Municipality, China
West China Women's and Children's Hospital, Sichuan University
Chengdu, Sichuan, China
Affiliated Hospital, Logistics University of People's Armed Police Force
Tianjin, Tianjin Municipality, China
Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
Ürümqi, Xinjiang, China
Countries
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Central Contacts
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Facility Contacts
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References
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Xu A, Lv T, Zhang B, Zhang W, Ou X, Huang J. Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease. J Clin Lab Anal. 2017 Jul;31(4):e22064. doi: 10.1002/jcla.22064. Epub 2016 Sep 17.
Lv T, Li X, Zhang W, Zhao X, Ou X, Huang J. Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis. Eur J Med Genet. 2016 Oct;59(10):532-9. doi: 10.1016/j.ejmg.2016.08.011. Epub 2016 Aug 31.
Zhang W, Li Y, Xu A, Ouyang Q, Wu L, Zhou D, Wu L, Zhang B, Zhao X, Wang Y, Wang X, Duan W, Wang Q, You H, Huang J, Ou X, Jia J; China Registry of Genetic/Metabolic Liver Diseases (CR-GMLD) Group. Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis. Orphanet J Rare Dis. 2022 Jun 6;17(1):216. doi: 10.1186/s13023-022-02349-y.
Other Identifiers
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CR-GMLD
Identifier Type: -
Identifier Source: org_study_id
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