Ignite Creation Date:
2025-12-25 @ 12:59 AM
Ignite Modification Date:
2026-02-25 @ 9:44 PM
Study NCT ID:
NCT07075393
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-12-10
First Post:
2025-07-11
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Description of Renal Involvement in Wilson's Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006527', 'term': 'Hepatolenticular Degeneration'}], 'ancestors': [{'id': 'D008107', 'term': 'Liver Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008664', 'term': 'Metal Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2026-02', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2027-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-09', 'studyFirstSubmitDate': '2025-07-11', 'studyFirstSubmitQcDate': '2025-07-18', 'lastUpdatePostDateStruct': {'date': '2025-12-10', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-07-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': "Prevalence of renal involvement in Wilson's disease", 'timeFrame': 'Day 0', 'description': 'Renal involvement is defined by the presence of at least one of the following criteria:\n\n* Chronic kidney disease, defined by an estimated glomerular filtration rate (eGFR) \\< 60 mL/min/1.73 m² and/or proteinuria \\> 0.5 g/g of creatinine.\n* Markers of proximal tubulopathy, defined by at least one of the following: phosphate diabetes (renal phosphate wasting), hypokalemia, normoglycemic glycosuria, β2-microglobulinuria, hypouricemia, or metabolic acidosis.\n* Hypercalciuria and/or urolithiasis.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Wilson Disease']}, 'descriptionModule': {'briefSummary': "Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys. Renal involvement in WD has been poorly studied, and systematic screening is not currently recommended.\n\nIndirect renal complications are the most common, such as hepatorenal and cardiorenal syndromes, as well as severe complications like hemolysis or rhabdomyolysis. However, literature suggests that copper may exert a direct toxic effect on renal tubular cells, leading to both proximal and distal tubular dysfunction. These may manifest through often subtle signs, such as aminoaciduria, glycosuria, hypouricemia, and low-molecular-weight proteinuria. Electrolyte imbalances of varying severity may also occur, including hypokalemia, which can cause muscle cramps and cardiac arrhythmias, as well as acid-base disorders (proximal or distal renal tubular acidosis), and/or phosphate-calcium metabolism abnormalities (phosphate diabetes and hypercalciuria). These latter issues may lead to complications such as urinary stones, nephrocalcinosis, and even fracture-related osteoporosis.\n\nIn addition, long-term treatment with D-penicillamine (DPA), a common therapy for WD, can cause renal damage in 10-20% of cases, mainly affecting the glomeruli. This includes membranous nephropathy, severe proliferative glomerulonephritis, or nephrotic syndrome with minimal change disease.\n\nWithout appropriate monitoring and preventive care, both direct and indirect renal complications can lead to acute or chronic kidney failure. It is likely that the prevalence and systemic impact of renal involvement in WD are currently underestimated."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '7 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients followed for Wilson disease accepting to undergo full renal workup (biology and echography)', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Patient aged 7 years and older\n* Diagnosed with Wilson's disease, with a Leipzig score ≥ 4\n\nExclusion Criteria:\n\n* Patient who has undergone organ transplantation\n* Known renal comorbidity unrelated to Wilson's disease\n* Pregnant or breastfeeding woman"}, 'identificationModule': {'nctId': 'NCT07075393', 'acronym': 'WILKID', 'briefTitle': "Description of Renal Involvement in Wilson's Disease", 'organization': {'class': 'NETWORK', 'fullName': 'Fondation Ophtalmologique Adolphe de Rothschild'}, 'officialTitle': "Description of Renal Involvement in Wilson's Disease", 'orgStudyIdInfo': {'id': 'APS_2025_1'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Wilson disease patients', 'description': 'Patients followed for wilson disease', 'interventionNames': ['Other: full renal workup']}], 'interventions': [{'name': 'full renal workup', 'type': 'OTHER', 'description': 'full renal workup (biology and echography)', 'armGroupLabels': ['Wilson disease patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75019', 'city': 'Paris', 'country': 'France', 'contacts': [{'name': 'Aurélia Poujois, Dr', 'role': 'CONTACT', 'email': 'apoujois@for.paris', 'phone': '+33148036656'}], 'facility': 'Hôpital Fondation Adolphe de Rothschild', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Amelie Yavchitz, Dr', 'role': 'CONTACT', 'email': 'ayavchitz@for.paris', 'phone': '+33148036454'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondation Ophtalmologique Adolphe de Rothschild', 'class': 'NETWORK'}, 'responsibleParty': {'type': 'SPONSOR'}}}}