Ignite Creation Date:
2025-12-24 @ 3:14 PM
Ignite Modification Date:
2026-02-21 @ 6:44 PM
Study NCT ID:
NCT03334292
Status:
RECRUITING
Last Update Posted:
2025-05-22
First Post:
2017-10-31
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Natural History of Wilson Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006527', 'term': 'Hepatolenticular Degeneration'}], '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'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Data will be collected prospectively from standard of care assessments as well as study specific assessments and entered into a central database. Some retrospective data in regards to the treatment for Wilson Disease prior to enrollment will be collected as well, if available from the medical record.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'targetDuration': '5 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-12-18', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2029-11-15', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-21', 'studyFirstSubmitDate': '2017-10-31', 'studyFirstSubmitQcDate': '2017-11-02', 'lastUpdatePostDateStruct': {'date': '2025-05-22', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-11-07', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-11-15', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Create registry for Wilson disease', 'timeFrame': '5 Years', 'description': "This outcome is a binary 'yes/no' outcome as to whether or not this study can successfully create a repository with the intent to store data and specimens to support the conduct of future research on Wilson disease."}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Wilson Disease'], 'conditions': ['Wilson Disease']}, 'descriptionModule': {'briefSummary': 'The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.', 'detailedDescription': 'There are three aims outlined as part of this research study.\n\nAim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the United Kingdom.\n\nAim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be used for analyzing the components of the diagnostic scores for patients.\n\nAim 3 is intended to determine whether a composite index or a biomarker can be used as surrogate marker for treatment monitoring for current patients on therapy that can be used for future patient treatment trials.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Adult and pediatric patients being evaluated for or with a diagnosis of WD who are willing to participate in the registry at designated study sites around the United States and in the United Kingdom.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Known diagnosis of WD\n* Able and willing to provide informed consent for adults (Parental/guardian permission (informed consent) and if appropriate, child assent for participants \\<18 (or per local Institutional Review Board (IRB) regulation)\n\nExclusion Criteria:\n\n* Diagnosis of WD has been excluded\n* Unwilling to provide informed consent or assent'}, 'identificationModule': {'nctId': 'NCT03334292', 'briefTitle': 'Natural History of Wilson Disease', 'organization': {'class': 'OTHER', 'fullName': 'Yale University'}, 'officialTitle': 'Natural History of Wilson Disease: Registry for Patients With Wilson Disease', 'orgStudyIdInfo': {'id': '1609018429'}}, 'contactsLocationsModule': {'locations': [{'zip': '06520', 'city': 'New Haven', 'state': 'Connecticut', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Sefa Keserci, PhD', 'role': 'CONTACT', 'email': 'sefa.keserci@yale.edu', 'phone': '203-376-6043'}, {'name': 'Asim Ulcay', 'role': 'CONTACT', 'email': 'asim.ulcay@yale.edu'}, {'name': 'Michael Schilsky, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Yale University', 'geoPoint': {'lat': 41.30815, 'lon': -72.92816}}, {'zip': '32803', 'city': 'Orlando', 'state': 'Florida', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ariana Mora', 'role': 'CONTACT', 'email': 'Ariana.Mora@AdventHealth.com'}, {'name': 'Pamela Hedrick', 'role': 'CONTACT', 'email': 'Pamela.Hedrick@AdventHealth.com'}, {'name': 'Regino Gonzalez-Peralta, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Advent Health', 'geoPoint': {'lat': 28.53834, 'lon': -81.37924}}, {'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Reza Amerinia', 'role': 'CONTACT', 'email': 'reza.amerinia@bcm.edu'}, {'name': 'Sanjiv Harpavat, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Baylor College of Medicine', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Phi Duong', 'role': 'CONTACT', 'email': 'phi.duong@seattlechildrens.org'}, {'name': 'Sihoun Hahn, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Seattle Children's Hospital", 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'zip': '69120', 'city': 'Heidelberg', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Jessica Langel', 'role': 'CONTACT', 'email': 'jessica.langel@med.uni-heidelberg.de', 'phone': '+49 6221 56-32512'}, {'name': 'Andrea Langel', 'role': 'CONTACT', 'email': 'andrea.langel@med.uni-heidelberg.de'}, {'name': 'Isabelle Mohr, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Universitätsklinikum Heidelberg', 'geoPoint': {'lat': 49.40768, 'lon': 8.69079}}, {'zip': 'GU2', 'city': 'Guildford', 'state': 'Surrey', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Michelle Camarata, MD', 'role': 'CONTACT', 'email': 'michelle.camarata@yale.edu'}, {'name': 'Joanna Smith', 'role': 'CONTACT', 'email': 'joanna.smith64@nhs.net', 'phone': '01487571122', 'phoneExt': '4088'}, {'name': 'Aftab Ala, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Royal Surrey Country Hospital', 'geoPoint': {'lat': 51.23536, 'lon': -0.57427}}], 'centralContacts': [{'name': 'Ricarda Tomlin', 'role': 'CONTACT', 'email': 'ricarda.tomlin@yale.edu', 'phone': '(203) 785-2073'}, {'name': 'Sefa Keserci, PhD', 'role': 'CONTACT', 'email': 'sefa.keserci@yale.edu', 'phone': '(203) 3766043'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Yale University', 'class': 'OTHER'}, 'collaborators': [{'name': 'Wilson Disease Association', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}