Ignite Creation Date:
2025-12-25 @ 3:25 AM
Ignite Modification Date:
2025-12-26 @ 2:05 AM
Study NCT ID:
NCT06065605
Status:
UNKNOWN
Last Update Posted:
2023-10-04
First Post:
2023-09-11
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000795', 'term': 'Fabry Disease'}], 'ancestors': [{'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2023-06-15', 'size': 629827, 'label': 'Study Protocol', 'hasIcf': False, 'hasSap': False, 'filename': 'Prot_000.pdf', 'typeAbbrev': 'Prot', 'uploadDate': '2023-09-11T13:15', 'hasProtocol': True}, {'date': '2023-09-05', 'size': 186249, 'label': 'Informed Consent Form', 'hasIcf': True, 'hasSap': False, 'filename': 'ICF_001.pdf', 'typeAbbrev': 'ICF', 'uploadDate': '2023-09-11T13:16', 'hasProtocol': False}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Urine sample.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 40}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-09-14', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-09', 'completionDateStruct': {'date': '2025-09-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-09-29', 'studyFirstSubmitDate': '2023-09-11', 'studyFirstSubmitQcDate': '2023-09-29', 'lastUpdatePostDateStruct': {'date': '2023-10-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-10-04', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-07-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'identify urinary inflammatory biomarkers associated with nephropathy in Fabry disease, Units pg/ml', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'IL-1β, TNF-α, IL-6, Il-4, IL-8, Il-10, Il-12, Il-18, MCP1, RANTES, BAFF, APRIL, TGF-β1, INF-gamma, and PAI-1will be measured in urine.'}], 'secondaryOutcomes': [{'measure': 'Identify biomarkers of renal glomerular function, tubular injury and endothelial dysfunction. Units pg/ml', 'timeFrame': 'through study completion, an average of 2 years', 'description': 'B2M, GFR, albumin, cystatin C, osteopontin, clusterin, creatinine, EGF, NGAL, KIM-1, alpha-1-microglobulin, bikunin, YKL-40, CK-18 M30.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Urine collection', 'biomarkers', 'CKD', 'Early detection'], 'conditions': ['Fabry Disease']}, 'descriptionModule': {'briefSummary': 'The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of nephropathy in Fabry disease and predict nephropathy in Fabry disease.', 'detailedDescription': 'This is a study to assess the markers related to autophagy, apoptosis, pyroptosis, and inflammatory markers related to NFkB, TNF-alpha, and TGF-β1 pathways in the urine. Urinary biomarkers will then be compared to the standard measures of kidney function and proteinuria: GFR, cystatin-C, B2M, bikunin, NGAL. Gb3 and Lyso-Gb3, urine microalbumin, and urine protein-to-creatinine (UPCR) ratio. Investigators will also analyze the role of therapy, especially for the inflammatory responses in participants on stable enzyme replacement therapy (ERT) with that of patients naïve to therapy.\n\nThere will be a total of 25 biomarkers that will be assessed during the study. Biomarkers of inflammation\n\n1. Il-4\n2. Il-6\n3. IL-8\n4. Il-10\n5. Il-12\n6. Il-18\n7. MCP1\n8. TGF-β1\n9. IFN-γ\n10. TNF-α\n11. IL-1β\n12. RANTES\n13. BAFF\n14. APRIL\n15. PAI-1 Biomarkers of kidney function and proteinuria\n16. B2M\n17. Bikunin\n18. NGAL\n19. Osteopontin\n20. Clusterin\n21. Creatinine Acute kidney injury\n22. KIM-1\n23. YKL-40\n24. EGF\n25. CK-18 M30'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '80 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'There is no particular study population being investigated. Only patient with Fabry disease and healthy controls from across the world will be enrolled in the study.', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Male and Female subject is greater than 18 but not older than 80 years.\n* Subject willing to sign the informed consent and/or assent.\n* Confirmed diagnosis of Fabry disease based on deficient α-Gal A enzymatic activity and molecular analysis demonstrating pathogenic variants in the GLA gene.\n\nExclusion Criteria:\n\n* Any other known genetic condition associated with CKD.\n* Evidence of hepatitis B or C infections or other chronic infectious diseases,\n* Pregnancy or breastfeeding.\n* Any other chronic condition, as per PI's discretion, that makes the subject ineligible."}, 'identificationModule': {'nctId': 'NCT06065605', 'briefTitle': 'Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease', 'organization': {'class': 'OTHER', 'fullName': 'Lysosomal and Rare Disorders Research and Treatment Center, Inc.'}, 'officialTitle': 'Pilot Study to Assess Clinical and Pivotal Biomarkers in the Urine to Predict the Progression of Nephropathy in Fabry Disease', 'orgStudyIdInfo': {'id': '23-LDRTC-01'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Fabry patients without clinical evidence of nephropathy', 'description': 'No deterioration of kidney function.'}, {'label': 'Fabry patients with clinical evidence of nephropathy', 'description': 'Deterioration of kidney function.'}, {'label': 'Naïve Fabry patients', 'description': 'These patients have no received treatment.'}, {'label': 'Healthy controls', 'description': 'Not diagnosed with Fabry disease.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20853', 'city': 'Rockville', 'state': 'Maryland', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'CONTACT', 'email': 'Ogoker-alpan@ldrtc.org', 'phone': '703-261-6220'}, {'name': 'Margarita Ivanova, Ph.D.', 'role': 'CONTACT', 'email': 'Mivanova@ldrtc.org', 'phone': '703-261-6220'}, {'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Margarita Ivanova, Ph.D.', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Lysosomal & Rare Disorders Research & Treatment Center', 'geoPoint': {'lat': 39.084, 'lon': -77.15276}}, {'zip': '22030', 'city': 'Fairfax', 'state': 'Virginia', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'CONTACT', 'email': 'Ogoker-alpan@ldrtc.org', 'phone': '703-261-6220'}, {'name': 'Uyensa Beese', 'role': 'CONTACT', 'email': 'ubeese@ldrtc.org', 'phone': '703-261-6220'}, {'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Margarita Ivanova, Ph.D.', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Lysosomal & Rare Disorders Research & Treatment Center', 'geoPoint': {'lat': 38.84622, 'lon': -77.30637}}], 'centralContacts': [{'name': 'Ozlem Goker-Alpan, M.D.', 'role': 'CONTACT', 'email': 'Ogoker-alpan@ldrtc.org', 'phone': '703-261-6220'}, {'name': 'Margarita Ivanova, Ph.D.', 'role': 'CONTACT', 'email': 'mivanova@ldrtc.org', 'phone': '703-261-6220'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Lysosomal and Rare Disorders Research and Treatment Center, Inc.', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}