Ignite Creation Date:
2025-12-25 @ 12:36 AM
Ignite Modification Date:
2026-02-20 @ 10:12 PM
Study NCT ID:
NCT04201067
Status:
COMPLETED
Last Update Posted:
2025-10-03
First Post:
2019-12-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D018981', 'term': 'Congenital Disorders of Glycosylation'}], 'ancestors': [{'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Stool, urine, DBS, fibroblasts, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 240}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-10-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2025-03-12', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-09-30', 'studyFirstSubmitDate': '2019-12-08', 'studyFirstSubmitQcDate': '2019-12-12', 'lastUpdatePostDateStruct': {'date': '2025-10-03', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2019-12-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-03-12', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Quantify N-linked glycan intermediates in plasma and urine', 'timeFrame': 'length of study, up to 5 years', 'description': 'Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.'}, {'measure': 'Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.', 'timeFrame': 'length of study, up to 5 years', 'description': 'Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.'}, {'measure': 'Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.', 'timeFrame': 'length of study, up to 5 years', 'description': 'Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.'}, {'measure': 'Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.', 'timeFrame': 'length of study, up to 5 years', 'description': 'Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.'}, {'measure': 'Validate novel diagnostic biomarkers for ALG13-CDG', 'timeFrame': 'length of study, up to 5 years', 'description': 'Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Congenital Disorders of Glycosylation']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://www.mayo.edu/research/clinical-trials', 'label': 'Mayo Clinic Clinical Trials'}]}, 'descriptionModule': {'briefSummary': 'Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.', 'detailedDescription': 'Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data\n\nExclusion Criteria:\n\n* None'}, 'identificationModule': {'nctId': 'NCT04201067', 'briefTitle': 'Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism', 'organization': {'class': 'OTHER', 'fullName': 'Mayo Clinic'}, 'officialTitle': 'Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism', 'orgStudyIdInfo': {'id': '16-004682'}, 'secondaryIdInfos': [{'id': 'U54NS115198-01', 'link': 'https://reporter.nih.gov/quickSearch/U54NS115198-01', 'type': 'NIH'}]}, 'contactsLocationsModule': {'locations': [{'zip': '55905', 'city': 'Rochester', 'state': 'Minnesota', 'country': 'United States', 'facility': 'Mayo Clinic in Rochester', 'geoPoint': {'lat': 44.02163, 'lon': -92.4699}}], 'overallOfficials': [{'name': 'David Deyle, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Mayo Clinic'}]}, 'ipdSharingStatementModule': {'infoTypes': ['STUDY_PROTOCOL'], 'timeFrame': 'length of study', 'ipdSharing': 'YES', 'description': "Information and samples can be shared at PI's discretion."}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Mayo Clinic', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'David R. Deyle', 'investigatorAffiliation': 'Mayo Clinic'}}}}