China Registry for Genetic / Metabolic Liver Diseases

NCT ID: NCT03131427

Last Updated: 2017-04-27

Study Results

Results pending

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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Recruitment Status

RECRUITING

Total Enrollment

20000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-06-13

Study Completion Date

2027-04-28

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.

Conditions

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Genetic/Metabolic Liver Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

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

Intervention Type DRUG

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

Intervention Type DRUG

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

Intervention Type DRUG

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

Intervention Type DRUG

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

Intervention Type DRUG

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

Intervention Type DRUG

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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Beijing YouAn Hospital

OTHER

Sponsor Role collaborator

Henan Provincial People's Hospital

OTHER

Sponsor Role collaborator

Beijing Ditan Hospital

OTHER

Sponsor Role collaborator

Hebei Medical University Third Hospital

OTHER

Sponsor Role collaborator

Peking University First Hospital

OTHER

Sponsor Role collaborator

Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital

UNKNOWN

Sponsor Role collaborator

Nanfang Hospital, Southern Medical University

OTHER

Sponsor Role collaborator

Logistics University of Chinese People's Armed Police Forces

OTHER

Sponsor Role collaborator

Beijing Anzhen Hospital

OTHER

Sponsor Role collaborator

West China Second University Hospital

OTHER

Sponsor Role collaborator

Jinshan Hospital Fudan University

OTHER

Sponsor Role collaborator

Fudan University

OTHER

Sponsor Role collaborator

Beijing Friendship Hospital

OTHER

Sponsor Role lead

Responsible Party

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Jidong Jia

Liver Research Center

Responsibility Role PRINCIPAL_INVESTIGATOR

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

Site Status RECRUITING

Beijing Anzhen Hospital, Capital Medical University

Beijing, Beijing Municipality, China

Site Status RECRUITING

Peking University First Hospital

Beijing, Beijing Municipality, China

Site Status RECRUITING

Beijing YouAn Hospital

Beijing, Beijing Municipality, China

Site Status RECRUITING

Nanfang Hospital of Southern Medical University

Guangzhou, Guangdong, China

Site Status RECRUITING

Hebei Medical University Third Hospital

Shijiazhuang, Hebei, China

Site Status RECRUITING

Henan Provincial Hospital

Zhengzhou, Henan, China

Site Status RECRUITING

Zhongshan Hospital, Fudan University

Shanghai, Shanghai Municipality, China

Site Status RECRUITING

Jinshan Hospital of Fudan University

Shanghai, Shanghai Municipality, China

Site Status RECRUITING

West China Women's and Children's Hospital, Sichuan University

Chengdu, Sichuan, China

Site Status RECRUITING

Affiliated Hospital, Logistics University of People's Armed Police Force

Tianjin, Tianjin Municipality, China

Site Status RECRUITING

Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital

Ürümqi, Xinjiang, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Jidong Jia, MD

Role: CONTACT

010-63139816

Xiaojuan Ou, MD

Role: CONTACT

010-63138315

Facility Contacts

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Wen Xie, MD

Role: primary

Yanwen Qin, MD

Role: primary

Yanling Yang, MD

Role: primary

Sujun Zheng, MD

Role: primary

Yongpeng Chen, MD

Role: primary

Yuemin Nan, MD

Role: primary

Jia Shang, MD

Role: primary

Wei Jiang, MD

Role: primary

Jianshe Wang, MD

Role: primary

Chaomin Wan, MD

Role: primary

Hai Li, MD

Role: primary

Xiaozhong Wang, MD

Role: primary

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.

Reference Type BACKGROUND
PMID: 27638368 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 27592149 (View on PubMed)

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.

Reference Type DERIVED
PMID: 35668470 (View on PubMed)

Other Identifiers

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CR-GMLD

Identifier Type: -

Identifier Source: org_study_id

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