China Registry for Genetic / Metabolic Liver Diseases
A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
1 other identifier
observational
20,000
1 country
12
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jun 2015
Longer than P75 for all trials
12 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 13, 2015
CompletedFirst Submitted
Initial submission to the registry
April 21, 2017
CompletedFirst Posted
Study publicly available on registry
April 27, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 28, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
April 28, 2027
ExpectedApril 27, 2017
April 1, 2017
6.9 years
April 21, 2017
April 24, 2017
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
rate of liver-related events of each disease.
Rates of cirrhosis, decompensation and hepatocellular carcinoma.
10 years
Secondary Outcomes (3)
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
Other Outcomes (1)
Quality of life
10 years
Study Arms (5)
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.
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.
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).
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).
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.
Interventions
Standard of care according to the updated national and/or international guidelines
Eligibility Criteria
The registry is a multicenter and observational study enrolling patients with genetic/metabolic liver disease across mailand China.
You may qualify if:
- 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.
You may not qualify if:
- Patients who are unable or unwilling to provide informed consent.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Beijing Friendship Hospitallead
- Beijing YouAn Hospitalcollaborator
- Henan Provincial People's Hospitalcollaborator
- Beijing Ditan Hospitalcollaborator
- Hebei Medical University Third Hospitalcollaborator
- Peking University First Hospitalcollaborator
- Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospitalcollaborator
- Nanfang Hospital, Southern Medical Universitycollaborator
- Logistics University of Chinese People's Armed Police Forcescollaborator
- Beijing Anzhen Hospitalcollaborator
- West China Second University Hospitalcollaborator
- Jinshan Hospital Fudan Universitycollaborator
- Fudan Universitycollaborator
Study Sites (12)
Beijing Ditan Hospital
Beijing, Beijing Municipality, 100015, China
Beijing Anzhen Hospital, Capital Medical University
Beijing, Beijing Municipality, 100029, China
Peking University First Hospital
Beijing, Beijing Municipality, 100034, China
Beijing YouAn Hospital
Beijing, Beijing Municipality, 100069, China
Nanfang Hospital of Southern Medical University
Guangzhou, Guangdong, 510515, China
Hebei Medical University Third Hospital
Shijiazhuang, Hebei, 050051, China
Henan Provincial Hospital
Zhengzhou, Henan, 450003, China
Zhongshan Hospital, Fudan University
Shanghai, Shanghai Municipality, 200032, China
Jinshan Hospital of Fudan University
Shanghai, Shanghai Municipality, 201508, China
West China Women's and Children's Hospital, Sichuan University
Chengdu, Sichuan, 610041, China
Affiliated Hospital, Logistics University of People's Armed Police Force
Tianjin, Tianjin Municipality, 300163, China
Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
Ürümqi, Xinjiang, 830099, China
Related Publications (3)
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.
PMID: 27638368BACKGROUNDLv 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.
PMID: 27592149BACKGROUNDZhang 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.
PMID: 35668470DERIVED
Biospecimen
whole blood, serum
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Jidong Jia, Doctor
Beijing Friendship Hospital
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Liver Research Center
Study Record Dates
First Submitted
April 21, 2017
First Posted
April 27, 2017
Study Start
June 13, 2015
Primary Completion
April 28, 2022
Study Completion (Estimated)
April 28, 2027
Last Updated
April 27, 2017
Record last verified: 2017-04
Data Sharing
- IPD Sharing
- Will not share