China Registry for Genetic / Metabolic Liver Diseases
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Standard of care.
- Who it may be relevant to
- Registry conditions: Genetic/Metabolic Liver Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
Overview
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
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.
Interventions
- Drug Standard of care
Standard of care according to the updated national and/or international guidelines
Primary outcome measures
- rate of liver-related events of each disease. [Time frame: 10 years]
Secondary outcome measures (3)
- Genotype profile in Chinese patients of each disease [Time frame: 10 years]
- Natural history of Chinese patients with each disease of different genotype [Time frame: 10 years]
- Causes of death in Chinese patients of each disease [Time frame: 10 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
China · 12 centers
- Beijing Ditan Hospital — Beijing
- Beijing Anzhen Hospital, Capital Medical University — Beijing
- Peking University First Hospital — Beijing
- Beijing YouAn Hospital — Beijing
- Nanfang Hospital of Southern Medical University — Guangzhou
- Hebei Medical University Third Hospital — Shijiazhuang
- Henan Provincial Hospital — Zhengzhou
- Zhongshan Hospital, Fudan University — Shanghai
- … and 4 more centers
Publications
- 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 27638368
- 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. PMID 27592149
- 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. PMID 35668470
Identifiers
NCT: NCT03131427 · CR-GMLD