Genetic/Metabolic Liver Diseases
Conditions
Keywords
Wilson's Disease, Hereditary Hemochromatosis, Hereditary Hyperbilirubinemias, Inherited Cholestatic Liver Disease, Genetic Testing
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.
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
DRUGStandard of care
Standard of care according to the updated national and/or international guidelines
Sponsors
Beijing YouAn Hospital
Henan Provincial People's Hospital
Beijing Ditan Hospital
Hebei Medical University Third Hospital
Peking University First Hospital
Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
Nanfang Hospital, Southern Medical University
Logistics University of Chinese People's Armed Police Forces
Beijing Anzhen Hospital
West China Second University Hospital
Jinshan Hospital Fudan University
Fudan University
Beijing Friendship Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| rate of liver-related events of each disease. | 10 years | Rates of cirrhosis, decompensation and hepatocellular carcinoma. |
Secondary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| Quality of life | 10 years |
Countries
China
Contacts
Primary ContactJidong Jia, MD
Backup ContactXiaojuan Ou, MD
Outcome results
None listed