Ignite Creation Date:
2025-12-25 @ 5:06 AM
Ignite Modification Date:
2026-03-02 @ 8:40 PM
Study NCT ID:
NCT03131427
Status:
RECRUITING
Last Update Posted:
2017-04-27
First Post:
2017-04-21
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
China Registry for Genetic / Metabolic Liver Diseases
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006527', 'term': 'Hepatolenticular Degeneration'}, {'id': 'D006432', 'term': 'Hemochromatosis'}, {'id': 'D006933', 'term': 'Hyperbilirubinemia, Hereditary'}], 'ancestors': [{'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008664', 'term': 'Metal Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D019190', 'term': 'Iron Overload'}, {'id': 'D019189', 'term': 'Iron Metabolism Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059039', 'term': 'Standard of Care'}], 'ancestors': [{'id': 'D019984', 'term': 'Quality Indicators, Health Care'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D006298', 'term': 'Health Services Administration'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood, serum'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20000}, 'targetDuration': '10 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-06-13', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-04', 'completionDateStruct': {'date': '2027-04-28', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-04-24', 'studyFirstSubmitDate': '2017-04-21', 'studyFirstSubmitQcDate': '2017-04-24', 'lastUpdatePostDateStruct': {'date': '2017-04-27', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-04-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-04-28', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Quality of life', 'timeFrame': '10 years'}], 'primaryOutcomes': [{'measure': 'rate of liver-related events of each disease.', 'timeFrame': '10 years', 'description': 'Rates of cirrhosis, decompensation and hepatocellular carcinoma.'}], 'secondaryOutcomes': [{'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'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ["Wilson's Disease", 'Hereditary Hemochromatosis', 'Hereditary Hyperbilirubinemias', 'Inherited Cholestatic Liver Disease', 'Genetic Testing'], 'conditions': ['Genetic/Metabolic Liver Diseases']}, 'referencesModule': {'references': [{'pmid': '27638368', 'type': 'BACKGROUND', '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."}, {'pmid': '27592149', 'type': 'BACKGROUND', '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.'}, {'pmid': '35668470', 'type': 'DERIVED', '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.'}]}, 'descriptionModule': {'briefSummary': "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.", 'detailedDescription': "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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The registry is a multicenter and observational study enrolling patients with genetic/metabolic liver disease across mailand China.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\nPatients who were diagnosed or possibly diagnosed with Wilson's disease, hereditary hemochromatosis, hereditary hyperbilirubinemias, inherited cholestatic liver disease or other genetic/metabolic liver diseases.\n\nExclusion Criteria:\n\nPatients who are unable or unwilling to provide informed consent."}, 'identificationModule': {'nctId': 'NCT03131427', 'briefTitle': 'China Registry for Genetic / Metabolic Liver Diseases', 'organization': {'class': 'OTHER', 'fullName': 'Beijing Friendship Hospital'}, 'officialTitle': 'A Nation-wide Hospital-based Registry:China Registry for Genetic / Metabolic Liver Diseases', 'orgStudyIdInfo': {'id': 'CR-GMLD'}}, 'armsInterventionsModule': {'armGroups': [{'label': "Wilson's Disease", 'description': "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.", 'interventionNames': ['Drug: Standard of care']}, {'label': 'Hereditary Hemochromatosis', 'description': '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.', 'interventionNames': ['Drug: Standard of care']}, {'label': 'Hereditary Hyperbilirubinemias', 'description': "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).", 'interventionNames': ['Drug: Standard of care']}, {'label': 'Inherited Cholestatic Liver Disease', 'description': 'Patients who were diagnosed or possibly diagnosed with Inherited cholestatic liver disease, including progressive familial intrahepatic cholestasis(PFIC) and benign recurrent intrahepatic cholestasis(BRIC).', 'interventionNames': ['Drug: Standard of care']}, {'label': 'Other genetic/metabolic liver diseases', 'description': "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.", 'interventionNames': ['Drug: Standard of care']}], 'interventions': [{'name': 'Standard of care', 'type': 'DRUG', 'description': 'Standard of care according to the updated national and/or international guidelines', 'armGroupLabels': ['Hereditary Hemochromatosis', 'Hereditary Hyperbilirubinemias', 'Inherited Cholestatic Liver Disease', 'Other genetic/metabolic liver diseases', "Wilson's Disease"]}]}, 'contactsLocationsModule': {'locations': [{'zip': '100015', 'city': 'Beijing', 'state': 'Beijing Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Wen Xie, MD', 'role': 'CONTACT', 'email': 'xiewen6218@163.com'}], 'facility': 'Beijing Ditan Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'zip': '100029', 'city': 'Beijing', 'state': 'Beijing Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yanwen Qin, MD', 'role': 'CONTACT', 'email': 'qinyanwen@126.com'}], 'facility': 'Beijing Anzhen Hospital, Capital Medical University', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'zip': '100034', 'city': 'Beijing', 'state': 'Beijing Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yanling Yang, MD', 'role': 'CONTACT', 'email': 'organic.acid@126.com'}], 'facility': 'Peking University First Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'zip': '100069', 'city': 'Beijing', 'state': 'Beijing Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Sujun Zheng, MD', 'role': 'CONTACT', 'email': 'zhengsu.jun003@126.com'}], 'facility': 'Beijing YouAn Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}, {'zip': '510515', 'city': 'Guangzhou', 'state': 'Guangdong', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yongpeng Chen, MD', 'role': 'CONTACT', 'email': 'cyp@smu.edu.cn'}], 'facility': 'Nanfang Hospital of Southern Medical University', 'geoPoint': {'lat': 23.11667, 'lon': 113.25}}, {'zip': '050051', 'city': 'Shijiazhuang', 'state': 'Hebei', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Yuemin Nan, MD', 'role': 'CONTACT', 'email': 'nanyuemin@163.com'}], 'facility': 'Hebei Medical University Third Hospital', 'geoPoint': {'lat': 38.04139, 'lon': 114.47861}}, {'zip': '450003', 'city': 'Zhengzhou', 'state': 'Henan', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Jia Shang, MD', 'role': 'CONTACT', 'email': 'shangjia666@126.com'}], 'facility': 'Henan Provincial Hospital', 'geoPoint': {'lat': 34.75778, 'lon': 113.64861}}, {'zip': '200032', 'city': 'Shanghai', 'state': 'Shanghai Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Wei Jiang, MD', 'role': 'CONTACT', 'email': 'jiang.wei@zs-hospital.sh.cn'}], 'facility': 'Zhongshan Hospital, Fudan University', 'geoPoint': {'lat': 31.22222, 'lon': 121.45806}}, {'zip': '201508', 'city': 'Shanghai', 'state': 'Shanghai Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Jianshe Wang, MD', 'role': 'CONTACT', 'email': 'jianshewang@sina.com'}], 'facility': 'Jinshan Hospital of Fudan University', 'geoPoint': {'lat': 31.22222, 'lon': 121.45806}}, {'zip': '610041', 'city': 'Chengdu', 'state': 'Sichuan', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Chaomin Wan, MD', 'role': 'CONTACT', 'email': 'wcm0220@sina.com'}], 'facility': "West China Women's and Children's Hospital, Sichuan University", 'geoPoint': {'lat': 30.66667, 'lon': 104.06667}}, {'zip': '300163', 'city': 'Tianjin', 'state': 'Tianjin Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Hai Li, MD', 'role': 'CONTACT', 'email': '15202265600@163.com'}], 'facility': "Affiliated Hospital, Logistics University of People's Armed Police Force", 'geoPoint': {'lat': 39.14222, 'lon': 117.17667}}, {'zip': '830099', 'city': 'Ürümqi', 'state': 'Xinjiang', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Xiaozhong Wang, MD', 'role': 'CONTACT', 'email': 'wxz125@sina.com'}], 'facility': 'Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital', 'geoPoint': {'lat': 43.80096, 'lon': 87.60046}}], 'centralContacts': [{'name': 'Jidong Jia, MD', 'role': 'CONTACT', 'email': 'jia_jd@ccmu.edu.cn', 'phone': '010-63139816'}, {'name': 'Xiaojuan Ou, MD', 'role': 'CONTACT', 'email': 'ouxj16@sina.com', 'phone': '010-63138315'}], 'overallOfficials': [{'name': 'Jidong Jia, Doctor', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Beijing Friendship Hospital'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Beijing Friendship Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Beijing YouAn Hospital', 'class': 'OTHER'}, {'name': "Henan Provincial People's Hospital", 'class': 'OTHER'}, {'name': 'Beijing Ditan Hospital', 'class': 'OTHER'}, {'name': 'Hebei Medical University Third Hospital', 'class': 'OTHER'}, {'name': 'Peking University First Hospital', 'class': 'OTHER'}, {'name': 'Xinjiang Uygur Autonomous Region Traditional Chinese Medicine Hospital', 'class': 'UNKNOWN'}, {'name': 'Nanfang Hospital, Southern Medical University', 'class': 'OTHER'}, {'name': "Logistics University of Chinese People's Armed Police Forces", 'class': 'OTHER'}, {'name': 'Beijing Anzhen Hospital', 'class': 'OTHER'}, {'name': 'West China Second University Hospital', 'class': 'OTHER'}, {'name': 'Jinshan Hospital Fudan University', 'class': 'OTHER'}, {'name': 'Fudan University', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Liver Research Center', 'investigatorFullName': 'Jidong Jia', 'investigatorAffiliation': 'Beijing Friendship Hospital'}}}}