Ignite Creation Date:
2025-12-25 @ 5:11 AM
Ignite Modification Date:
2025-12-26 @ 4:16 AM
Study NCT ID:
NCT04315727
Status:
UNKNOWN
Last Update Posted:
2023-11-29
First Post:
2020-03-17
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D035583', 'term': 'Rare Diseases'}, {'id': 'D020022', 'term': 'Genetic Predisposition to Disease'}], 'ancestors': [{'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D004198', 'term': 'Disease Susceptibility'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-02-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-11', 'completionDateStruct': {'date': '2024-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-11-28', 'studyFirstSubmitDate': '2020-03-17', 'studyFirstSubmitQcDate': '2020-03-17', 'lastUpdatePostDateStruct': {'date': '2023-11-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-03-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-07', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of the molecular causes of unclear rare diseases', 'timeFrame': 'Day 1', 'description': 'Number of molecular causes'}], 'secondaryOutcomes': [{'measure': 'Diagnoses for patients with rare diseases', 'timeFrame': 'Day 1', 'description': 'Number of diagnoses for patients with rare diseases'}, {'measure': 'Molecular characterization of putative disease causes', 'timeFrame': 'Day 1', 'description': 'Identify molecular characterization of the putative disease causes'}, {'measure': 'Patients receiving appropriate therapy after successful diagnosis', 'timeFrame': 'Day 1', 'description': 'Number of patients receiving appropriate therapy after successful diagnosis'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Rare Diseases', 'Genetic Predisposition', 'Whole Exome Sequencing', 'Whole Genome Sequencing (WGS)', 'WGS-trio analysis'], 'conditions': ['Rare Diseases', 'Genetic Predisposition to Disease']}, 'descriptionModule': {'briefSummary': 'The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).', 'detailedDescription': 'In the GENOME+ study (monocentric, prospective, open-label diagnostic study), patients with molecularly undiagnosed diseases will diagnostically be analyzed by means of omics technologies or re-analyzed using existing datasets. The following questions will be leading the study:\n\nPrimary:\n\n• Identification of the molecular causes of unclear rare diseases\n\nSecondary:\n\n* Improve number of diagnoses for patients with rare diseases\n* Further characterization of the identified putative disease causes\n* Increase number of patients receiving appropriate therapy after successful diagnosis.\n\nIn addition, healthy parents of the subjects may be included in the study to perform parent-child (trio) analyses.\n\nIn addition, phenotype and omics data will be shared within the University Hospital Tübingen, Germany and with external collaborators to improve the diagnostic rate of the patients included in the study.\n\nStorage of blood or tissue samples is not primary goal of this project, but may be necessary for further analyses.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Unclear diagnosis\n* Suspected genetic cause of the disease\n* Previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism\n* Healthy parents of those affected for trio analysis (exception of one parent is not available for the study)\n\nExclusion Criteria:\n\n* Missing informed consent of the patient and her/his parents'}, 'identificationModule': {'nctId': 'NCT04315727', 'briefTitle': 'Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Tuebingen'}, 'officialTitle': 'Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings', 'orgStudyIdInfo': {'id': 'GENOME +'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Study population', 'description': 'Both underage and adult persons (male and female) with diagnostically unsolved rare diseases who have been or are included into diagnostic care at the University Hospital Tübingen, Germany (UKT) and who are suspected of having a genetic cause of the disease. In addition, healthy parents of volunteers will be recruited if available to facilitate Trio studies.\n\nStudy related procedures: Blood sampling, hair collection, anamnesis including pedigree, Next Generation Sequencing (NGS) analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures, organoid cultivation).', 'interventionNames': ['Genetic: WGS Diagnostic Blood take for genetic diagnostic.', 'Genetic: Hair collection']}], 'interventions': [{'name': 'WGS Diagnostic Blood take for genetic diagnostic.', 'type': 'GENETIC', 'description': 'Blood sampling, shot clinical characterization, WGS based trio sequencing, NGS analysis and other omics analysis (transcriptomics, proteomics, metabolomics), functional cell biology studies (for example in fibroblast cultures), RNA Sequencing (RNA-seq).', 'armGroupLabels': ['Study population']}, {'name': 'Hair collection', 'type': 'GENETIC', 'description': 'Hair including root will be collected from the scalp (\\~15-20) and transferred to cultivation medium for the organoid cultivation', 'armGroupLabels': ['Study population']}]}, 'contactsLocationsModule': {'locations': [{'zip': '72076', 'city': 'Tübingen', 'status': 'NOT_YET_RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Olaf Rieß, Prof. Dr.', 'role': 'CONTACT', 'email': 'olaf.riess@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72323'}, {'name': 'Andreas Dufke, PD Dr.', 'role': 'CONTACT', 'email': 'andreas.dufke@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72190'}], 'facility': 'University Hospital Tübingen', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}, {'zip': '72076', 'city': 'Tübingen', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Olaf Rieß, Prof. Dr.', 'role': 'CONTACT', 'email': '0laf.riess@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72323'}, {'name': 'Andreas Dufke, PD Dr.', 'role': 'CONTACT', 'email': 'andreas.dufke@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72190'}], 'facility': 'University Hospital Tübingen', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}], 'centralContacts': [{'name': 'Olaf Rieß, Prof. Dr.', 'role': 'CONTACT', 'email': 'olaf.riess@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72323'}, {'name': 'Andreas Dufke, PD Dr.', 'role': 'CONTACT', 'email': 'andreas.dufke@med.uni-tuebingen.de', 'phone': '+49 7071 29', 'phoneExt': '72190'}], 'overallOfficials': [{'name': 'Olaf Rieß', 'role': 'STUDY_DIRECTOR', 'affiliation': 'University Hospital Tübingen'}]}, 'ipdSharingStatementModule': {'infoTypes': ['ANALYTIC_CODE'], 'timeFrame': 'Data will become available after analysis and unlimited.', 'ipdSharing': 'YES', 'description': 'The GENOME+ study will provide data in a pseudonymized manner to national and international databases set up to increase the diagnostic yield through advanced analysis tools and matchmaking against other cohorts', 'accessCriteria': 'Authorized users within the participating organizations'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Tuebingen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}