Ignite Creation Date:
2025-12-25 @ 1:39 AM
Ignite Modification Date:
2025-12-26 @ 4:34 PM
Study NCT ID:
NCT04399694
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2025-10-15
First Post:
2020-05-15
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}], 'ancestors': [{'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Samples with DNA and/or RNA'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 56}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2020-03-03', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-01', 'completionDateStruct': {'date': '2027-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-10-13', 'studyFirstSubmitDate': '2020-05-15', 'studyFirstSubmitQcDate': '2020-05-19', 'lastUpdatePostDateStruct': {'date': '2025-10-15', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2020-05-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of missing pathogenic protein coding variants', 'timeFrame': '2 years'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Genetic Disease', 'Inborn Errors of Metabolism', 'Glycogen Storage Disease', 'Lysosomal Storage Diseases', 'Storage Disease']}, 'descriptionModule': {'briefSummary': 'The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.', 'detailedDescription': 'To perform this study, we will use patient DNA and RNA that is isolated from blood samples. DNA will be sequenced (targeted capture and/or whole genome DNA sequencing (WGS)) to identify any non-coding single nucleotide variants (SNVs), smaller insertions/deletions (indels), or larger structural variants (SVs). RNA will be sequenced (RNA-seq) to identify genes that are expressed in a differential and/or allele-specific manner, which may indicate a functional non-coding or splicing variant. We will test the function of non-coding variants using high-throughput reporter assays and CRISPR based methodologies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with diagnosed genetic disease and inconclusive genetic results and their unaffected family members', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\nSubjects will have one or more of the following:\n\n* Patients (probands) diagnosed with a genetic disease\n* Patients (probands) with inconclusive genetic results\n* Patients (probands) that have identical coding and/or splicing variants, but display highly diverse phenotypes\n* Unaffected family members of probands\n\nExclusion Criteria: There are no exclusion criteria for this study.'}, 'identificationModule': {'nctId': 'NCT04399694', 'briefTitle': 'Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders', 'organization': {'class': 'OTHER', 'fullName': 'Duke University'}, 'officialTitle': 'Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders', 'orgStudyIdInfo': {'id': 'Pro00090878'}}, 'contactsLocationsModule': {'locations': [{'zip': '27710', 'city': 'Durham', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Duke University', 'geoPoint': {'lat': 35.99403, 'lon': -78.89862}}], 'overallOfficials': [{'name': 'Priya Kishnani, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Duke'}, {'name': 'Greg Crawford, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Duke'}]}, 'ipdSharingStatementModule': {'infoTypes': ['CSR'], 'timeFrame': 'Data will be available 7-12 months after results are generated and will be available forever.', 'ipdSharing': 'YES', 'description': 'Data will be submitted to dbGaP, casual variants to ClinVar, aggregate rare phenotype and variant data to Geno2MP and other databases, candidate genes via a public list and linked to a node of the MatchMaker Exchange (MyGene2).'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Duke University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}