Ignite Creation Date:
2025-12-25 @ 3:23 AM
Ignite Modification Date:
2025-12-26 @ 2:01 AM
Study NCT ID:
NCT03799705
Status:
COMPLETED
Last Update Posted:
2024-04-19
First Post:
2018-08-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536495', 'term': 'VACTERL association'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}], 'ancestors': [{'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA and metabolites will be extracted from blood and urine for genetic variant and targeted metabolomics analyses.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 132}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-12-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-04', 'completionDateStruct': {'date': '2022-12-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-04-17', 'studyFirstSubmitDate': '2018-08-29', 'studyFirstSubmitQcDate': '2019-01-09', 'lastUpdatePostDateStruct': {'date': '2024-04-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-01-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-12-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genetic variants', 'timeFrame': '2 years', 'description': 'Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.'}, {'measure': 'Targeted metabolomics', 'timeFrame': '2 years', 'description': 'Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Vacterl Association', 'Congenital Malformation']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.mayo.edu/research/clinical-trials', 'label': 'Mayo Clinic Clinical Trials'}]}, 'descriptionModule': {'briefSummary': 'Researchers are trying to identify versions of genes as well as factors in subjects blood associated with certain types of congenital malformations(CMs). This study will help the researchers to better understand family traits that contribute to CMs.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'A US population consisting of adults with VACTERL, adults and offspring with a family history of VACTERL, and women with a history of miscarriage and/or congenital malformations.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n1. Adults with confirmed or putative diagnosis of VACTERL association;\n2. Families (mother, father, biological offspring) with a history of VACTERL-associated malformations\n3. Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations\n4. Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection\n\nExclusion Criteria:\n\n1\\) Parents of non-biological children 3) Children with congenital malformations associated with an identifiable environmental or lifestyle exposure 4) Children with congenital malformations associated with confirmed chromosomal disorders 5) Failure to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection."}, 'identificationModule': {'nctId': 'NCT03799705', 'briefTitle': 'Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations', 'orgStudyIdInfo': {'id': '18-001135'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'History of VACTERL or congenital malformations', 'description': '1\\) Adults with VACTERL association; 2) adults with a history of congenital malformations resembling VACTERL association; 3) gravid and non-gravid women with a history of recurrent miscarriage, their surviving offspring, and the biological father of offspring; 4) newly diagnosed VACTERL patients identified by healthcare providers.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'overallOfficials': [{'name': 'Myra Wick, MD PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Myra J. Wick', 'investigatorAffiliation': 'Mayo Clinic'}}}}