Genetic/Metabolic Liver DiseasesNCT03131427
China Registry for Genetic / Metabolic Liver Diseases
An observational study of Genetic/Metabolic Liver Diseases, run by Beijing Friendship Hospital at 12 sites in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic/Metabolic Liver Diseases
- How many people
- 20,000 participants
- Where
- 12 sitesChina
- Study dates
- 13 Jun 2015to 28 Apr 2027
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The registry is a multicenter and observational study enrolling patients with genetic/metabolic liver disease across mailand China.
Who may be able to join
- 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.
Who cannot join
- Patients who are unable or unwilling to provide informed consent.
Trial locations and contacts
12 sites in 1 country. Contact the study team or a site near you to ask about taking part.
12 sites in 1 country
China12 sites, 12 recruiting
- Recruiting
Beijing Ditan Hospital
Beijing, Beijing Municipality, 100015
Wen Xie, MD, xiewen6218@163.com
- Recruiting
Beijing Anzhen Hospital, Capital Medical University
Beijing, Beijing Municipality, 100029
Yanwen Qin, MD, qinyanwen@126.com
- Recruiting
Peking University First Hospital
Beijing, Beijing Municipality, 100034
Yanling Yang, MD, organic.acid@126.com
- Recruiting
Beijing YouAn Hospital
Beijing, Beijing Municipality, 100069
Sujun Zheng, MD, zhengsu.jun003@126.com
- Recruiting
West China Women's and Children's Hospital, Sichuan University
Chengdu, Sichuan, 610041
Chaomin Wan, MD, wcm0220@sina.com
- Recruiting
Nanfang Hospital of Southern Medical University
Guangzhou, Guangdong, 510515
Yongpeng Chen, MD, cyp@smu.edu.cn
- Recruiting
Zhongshan Hospital, Fudan University
Shanghai, Shanghai Municipality, 200032
Wei Jiang, MD, jiang.wei@zs-hospital.sh.cn
- Recruiting
Jinshan Hospital of Fudan University
Shanghai, Shanghai Municipality, 201508
Jianshe Wang, MD, jianshewang@sina.com
- Recruiting
Hebei Medical University Third Hospital
Shijiazhuang, Hebei, 050051
Yuemin Nan, MD, nanyuemin@163.com
- Recruiting
Affiliated Hospital, Logistics University of People's Armed Police Force
Tianjin, Tianjin Municipality, 300163
Hai Li, MD, 15202265600@163.com
- Recruiting
Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital
Ürümqi, Xinjiang, 830099
Xiaozhong Wang, MD, wxz125@sina.com
- Recruiting
Henan Provincial Hospital
Zhengzhou, Henan, 450003
Jia Shang, MD, shangjia666@126.com
About this study
Official title: A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
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.
Read the 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.
- Conditions
- Genetic/Metabolic Liver Diseases
- Being tested
- Standard of care
- Keywords
- Wilson's Disease, Hereditary Hemochromatosis, Hereditary Hyperbilirubinemias, Inherited Cholestatic Liver Disease, Genetic Testing
- Medical subject headings
- Hepatolenticular Degeneration, Hemochromatosis, Hyperbilirubinemia, Hereditary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Standard of careDrug
Standard of care according to the updated national and/or international guidelines
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Standard of care | |
| 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. Receives: Drug: Standard of care | |
| 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). Receives: Drug: Standard of care | |
| 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). Receives: Drug: Standard of care | |
| 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. Receives: Drug: Standard of care |
What is being measured
The primary outcome is the main question the study is designed to answer.
rate of liver-related events of each disease.
Rates of cirrhosis, decompensation and hepatocellular carcinoma.
Measured: 10 years
Secondary outcomes (3)
Genotype profile in Chinese patients of each disease
Measured: 10 years
Natural history of Chinese patients with each disease of different genotype
Measured: 10 years
Causes of death in Chinese patients of each disease
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Apr 2017
- Study start13 Jun 2015
- Primary completion28 Apr 2022 (estimated)
- Study completion28 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Genetic/Metabolic Liver DiseasesStudies of the same condition, open and under way.
- More trials run by Beijing Friendship HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 20,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Beijing Friendship Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- 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
- Responsible party
- Principal investigator, Jidong Jia, Beijing Friendship Hospital
- Investigators
- Jidong Jia, Doctor, Principal investigator, Beijing Friendship Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03131427
- Sponsor's protocol ID
- CR-GMLD
- Status last verified
- Apr 2017
- First submitted
- 21 Apr 2017
- Last updated
- 27 Apr 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 27638368Lv 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.
PubMed 27592149Zhang 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.
PubMed 35668470
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases
- ClinicalTrials.gov ID
- NCT03131427
- Acronym / sponsor ID
- CR-GMLD
- Conditions
- Genetic/Metabolic Liver Diseases
- Keywords
- Wilson's Disease, Hereditary Hemochromatosis, Hereditary Hyperbilirubinemias, Inherited Cholestatic Liver Disease, Genetic Testing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 20,000 participants (estimated)
- Lead sponsor
- Beijing Friendship HospitalUniversity, hospital or other
- Collaborators
- 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
- Study start
- 13 Jun 2015 (actual)
- Primary completion
- 28 Apr 2022 (estimated)
- Study completion
- 28 Apr 2027 (estimated)
- First posted
- 27 Apr 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| Wilson's Disease | – | Drug: Standard of carePatients 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 | – | Drug: Standard of careHereditary 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 | – | Drug: Standard of careHereditary 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 | – | Drug: Standard of carePatients 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 | – | Drug: Standard of carePatients 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The registry is a multicenter and observational study enrolling patients with genetic/metabolic liver disease across mailand China.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Patients who are unable or unwilling to provide informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Standard of careStandard of care according to the updated national and/or international guidelines | Drug | Hereditary Hemochromatosis, Hereditary Hyperbilirubinemias, Inherited Cholestatic Liver Disease, Other genetic/metabolic liver diseases, Wilson's Disease |
Primary outcome
rate of liver-related events of each disease.
Time frame: 10 years
Rates of cirrhosis, decompensation and hepatocellular carcinoma.
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Apr 2017.
- Background: PubMed 27638368Xu 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.
- Background: PubMed 27592149Lv 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.
- Derived from this study: PubMed 35668470Zhang 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jidong Jia, Doctor principal investigator
Beijing Friendship Hospital
12 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic/Metabolic Liver Diseases, run by Beijing Friendship Hospital at 12 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Apr 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jidong Jia, MD (010-63139816, jia_jd@ccmu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
rate of liver-related events of each disease. (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03131427, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Apr 2017.