Clinical trial NCT03131427: China Registry for Genetic / Metabolic Liver Diseases
Official title: A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Genetic/Metabolic Liver Diseases
Keywords: Wilson's Disease
Hereditary Hemochromatosis
Hereditary Hyperbilirubinemias
Inherited Cholestatic Liver Disease
Genetic Testing
Lead sponsor: Beijing Friendship Hospital
Sponsor class: OTHER
Collaborators: name: Beijing YouAn Hospital
name: Henan Provincial People's Hospital
name: Beijing Ditan Hospital
name: Hebei Medical University Third Hospital
name: Peking University First Hospital
name: Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
name: Nanfang Hospital, Southern Medical University
name: Logistics University of Chinese People's Armed Police Forces
name: Beijing Anzhen Hospital
name: West China Second University Hospital
name: Jinshan Hospital Fudan University
name: Fudan University
First posted: 2017-04-27
Enrollment: 20000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The registry is a multicenter and observational study enrolling patients with genetic/metabolic liver disease across mailand China.

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.

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.

Primary outcomes:
measure: rate of liver-related events of each disease.
timeFrame: 10 years
Secondary outcomes:
measure: Genotype profile in Chinese patients of each disease
timeFrame: 10 years
measure: Natural history of Chinese patients with each disease of different genotype
timeFrame: 10 years
measure: Causes of death in Chinese patients of each disease
timeFrame: 10 years
Other outcomes:
measure: Quality of life
timeFrame: 10 years
Locations:
city: Beijing
country: China
facility: Beijing Ditan Hospital
state: Beijing
city: Beijing
country: China
facility: Beijing Anzhen Hospital, Capital Medical University
state: Beijing
city: Beijing
country: China
facility: Peking University First Hospital
state: Beijing
city: Beijing
country: China
facility: Beijing YouAn Hospital
state: Beijing
city: Guangzhou
country: China
facility: Nanfang Hospital of Southern Medical University
state: Guangdong
city: Shijiazhuang
country: China
facility: Hebei Medical University Third Hospital
state: Hebei
city: Zhengzhou
country: China
facility: Henan Provincial Hospital
state: Henan
city: Shanghai
country: China
facility: Zhongshan Hospital, Fudan University
state: Shanghai
city: Shanghai
country: China
facility: Jinshan Hospital of Fudan University
state: Shanghai
city: Chengdu
country: China
facility: West China Women's and Children's Hospital, Sichuan University
state: Sichuan
city: Tianjin
country: China
facility: Affiliated Hospital, Logistics University of People's Armed Police Force
state: Tianjin
city: Urumqi
country: China
facility: Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
state: Xinjiang
Study officials:
affiliation: Beijing Friendship Hospital
name: Jidong Jia, Doctor
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.