[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"wilson-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:wilson-disease":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,14,0,[8,40,64,94,119,145,196,219,237,266,289,312,334,357],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100311428","natural-history-of-wilson-disease-100311428",false,"NCT03334292","Natural History of Wilson Disease","Natural History of Wilson Disease: Registry for Patients With Wilson Disease","Inclusion Criteria:\n\n* Known diagnosis of WD\n* Able and willing to provide informed consent for adults (Parental\u002Fguardian permission (informed consent) and if appropriate, child assent for participants \\\u003C18 (or per local Institutional Review Board (IRB) regulation)\n\nExclusion Criteria:\n\n* Diagnosis of WD has been excluded\n* Unwilling to provide informed consent or assent","ALL",{"count":18,"type":19},300,"ESTIMATED","5 Years","OBSERVATIONAL","The purpose of the registry\u002Frepository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.",[24],"Wilson Disease",[24,26],"Copper","RECRUITING","2026-06-17",{"date":30,"type":31},"2026-06-22","ACTUAL",{"date":33,"type":31},"2017-12-18",{"date":35,"type":19},"2029-11-15",{"name":37,"class":38},"Yale University","OTHER",6,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":47,"maxAge":4,"enrollmentInfo":48,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":50,"conditions":51,"keywords":52,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":63},"100616100","off-treatment-urinary-copper-excretion-in-wilson-disease-pilot-study-100616100","NCT07301216","Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study","Monitoring of Therapy in Wilson Disease With Off-Treatment Urinary Copper Excretion (OT-UCE): Comparison With Serum Non-Ceruloplasmin Copper (NCC) Assays","Inclusion Criteria:\n\n* Patients with Wilson Disease as defined by Leipzig score ≥4.\n* Provision of signed and dated informed consent form.\n* Stated willingness to comply with all study procedures (serial 24 h urine collections and local collection of samples for NCC, liver function and estimated GFR) and availability for the duration of the study.\n* Treated WD for at least 12 months prior to study entry.\n* Aminotransferase values (ASAT and ALAT) \\\u003C 2 times the upper limit of normal (ULN).\n* INR \\\u003C 1.5 or stable INR for those with initial elevated INR for at least six months prior to study entry in the absence of anticoagulation therapy.\n* Renal function defined as eGFR \\> 30 cc\u002Fmin.\n* No change of WD therapy during the previous 6 months of study enrollment.\n\nExclusion Criteria:\n\n* Current dual \u002F mixed therapy for WD (i.e. zinc and d-penicillamine or trientine at the same time)\n* Current Pregnancy or lactation. \\*\n* Recent estrogen-based treatment (in the last month).\n* Cirrhosis with recent hepatic decompensation (within the last 6 months) - new onset of ascites, spontaneous bacterial peritonitis, esophageal variceal bleeding, or hepatic encephalopathy\n* Investigator believes the patient will be unable to do the required 24-hour urine studies and participate in the follow up visits as expected.\n* Previous non-compliance for therapy and\u002For to low-copper diet that would compromise the evaluation of previous UCE and\u002F or results from the off-treatment period.\n\n  * Childbearing aged patients recruited outside of the registry will be reviewed, and the patients will be asked to perform an initial urine pregnancy test prior to the recommended blood testing (approximately 60 to 90 days prior to intervention). They will be permitted to continue with the screening process if the result is negative. They will be asked to perform a second urine pregnancy test as close as possible prior to study intervention (discontinuation of treatment). If the result of the second pregnancy test is negative they will be permitted to continue with the protocol, but if the result is positive they will be excluded from further participation at that time.\n\nChildbearing aged patients recruited from the registry who meet inclusion criteria and may move directly to the study intervention will be required to perform a urine pregnancy test as close as possible to the time prior to the initiation of the study protocol (discontinuation of treatment).","18 Years",{"count":49,"type":19},30,"This is a prospective study that will determine the optimal timing for 24-hour urinary copper excretion (UCE) measurement after temporary discontinuation of standard therapies in Wilson Disease (WD) patients. The primary objective is to assess whether off-treatment UCE (OT-UCE) correlates with non-ceruloplasmin-bound copper (NCC) levels, aiming to validate OT-UCE as a surrogate marker for systemic copper bioavailability and disease stability. Stable WD patients will be enrolled, temporarily taken off treatment under close monitoring, and undergo UCE and NCC testing. If OT-UCE is validated, it could serve as a practical biomarker for monitoring WD treatment and stability in clinical practice and future trials.",[24],[53,54],"Urine copper excretion","Non-ceruloplasmin bound copper","2026-03-04",{"date":57,"type":31},"2026-03-05",{"date":59,"type":31},"2026-01-08",{"date":61,"type":19},"2028-09-30",{"name":37,"class":38},1,{"id":65,"slug":66,"hasResults":11,"nctId":67,"briefTitle":68,"officialTitle":68,"acronym":69,"eligibilityCriteria":70,"healthyVolunteers":71,"sex":16,"minAge":72,"maxAge":4,"enrollmentInfo":73,"targetDuration":4,"studyType":75,"phases":76,"briefSummary":78,"conditions":79,"keywords":82,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":93},"100588721","wilsons-disease-treated-with-d-penicillamine-characterization-of-skin-damage-secondary-to-treatment-by-measuring-skin-elasticity-100588721","NCT06945081","Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity","WILDERME","Inclusion Criteria:\n\nDiseased patients :\n\n* Patient over 12 years old\n* Patient with Wilson's disease confirmed by genetic analysis\n* Patient followed up in the Wilson's Disease Reference Center for his care\n* Patient treated with D-Penicillamine\n* Patient with no other known elastic tissue pathology\n\nHealthy volunteers :\n\n* Patient over 12 years old\n* Patient followed up in the dermatology department of St Etienne University Hospital\n* Patient matched on sex and age with a patient from the \"Wilson's disease\" group\n* Patient with no elastic tissue pathology\n\nAll patients :\n\n* Patient affiliated to a national social security\n* Patient with written informed consent\n\nExclusion Criteria:\n\nAll patients:\n\n* Patient not taking a treatment (at investigator's discretion) that may modify skin elasticity\n* Patient with pathological lesion(s) on forearm or cheek\n* Patient with a potentially active\u002Frejuvenative forearm or cheek treatment\n* Patient having applied cream and\u002For make-up to the areas to be molded (forearm and cheek)\n* Patient under guardianship\n* Patient unable to follow study procedures\n* Pregnant or breast-feeding women",true,"12 Years",{"count":74,"type":19},120,"INTERVENTIONAL",[77],"NA","Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea, leading to various hepatic and neurological disorders and a systemic evolution.\n\nCurrently, the first-line treatment for this disease is D-Penicillamine, which acts by chelation and promotes copper excretion through the urine. Unfortunately, this treatment also has significant side-effects, particularly on the skin. However, the pathogenesis of elastopathy in patients with Wilson's disease has yet to be fully characterized, and needs to be better understood in order to adapt the therapeutic strategy.\n\nA silicon mold will be made on Wilson's disease patients, enabling the skin micro-relief to be shaped, and analyzed by confocal laser in comparison with the skin of healthy volunteers.",[24,80,81],"D-Penicillamine","Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient",[83],"Cutaneous elastopathy","2026-01-21",{"date":86,"type":31},"2026-01-23",{"date":88,"type":31},"2025-11-28",{"date":90,"type":19},"2026-06",{"name":92,"class":38},"Centre Hospitalier Universitaire de Saint Etienne",2,{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":100,"eligibilityCriteria":101,"healthyVolunteers":11,"sex":16,"minAge":102,"maxAge":103,"enrollmentInfo":104,"targetDuration":4,"studyType":75,"phases":106,"briefSummary":108,"conditions":109,"keywords":110,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":112,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":63},"100566064","early-phase-1-a-clinical-study-to-evaluate-the-safety-and-efficacy-of-ly-m003-injection-in-patients-with-wilson-disease-100566064","NCT06650319","A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease","Prospective, Single-center, Open-label, Single-arm, Single-dose Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult and Pediatric Patients With Wilson Disease","WD","Inclusion Criteria:\n\n1. The subject must be able to fully understood the purpose, nature, method, and possible adverse effects of the study, must be able to voluntarily participate in the study and voluntarily able to provide the written informed consent form (ICF).\n2. Patients diagnosed with Wilson Disease .\n3. Wilson Disease (WD) patients confirmed by laboratory tests to have biallelic mutations in the ATP7B gene.\n4. Subjects must be treatment-experienced to WD who have received standard treatment (eg, D-penicillamine or zinc acetate) for at least 6 months prior to the screening period.\n5. Subjects must restrict food with high copper content for at least 6 months prior to screening and continue this restriction during the entire duration of study participation.\n6. Subjects must be willing to refrain from donating blood, organs, tissues or cells during study participation.\n7. Negative pregnancy test in women of childbearing potential (WOCBP).\n8. Subjects and their partners who have no childbearing plans from the screening period to 6 months after the end of the study and are willing to adopt effective contraceptive measures (e.g., abstinence, condoms, etc.); subjects have no plans to donate sperm or ova.\n\nExclusion Criteria:\n\n1. AAV8 neutralizing antibody titer \\> 1:10 .\n2. Active gastrointestinal bleeding within the past 3 months.\n3. Decompensated cirrhosis or advanced hepatic disease, manifested as portal hypertension, ascites, splenomegaly, esophageal varices, hepatic encephalopathy, etc.\n4. Subjects with other liver diseases as determined by the investigator, such as immune hepatitis, alcoholic liver disease, primary biliary cholangitis, primary sclerosing cholangitis, and\u002For drug or toxic liver disease\n5. Subjects considered as complicated with severe hypersplenism and requiring splenectomy as judged by the investigator.\n6. Model for End-Stage Liver Disease (MELD) Score \\> 13.\n7. Other disorders of copper metabolism, such as chronic cholestatic liver diseases, disorders of glycosylation, copper metabolism disorders, etc.\n8. History of noncompliance with copper chelators or zinc agents within 6 months prior to screening, as determined by the investigator.\n9. Subjects with treatment-experienced WD who have ALT and\u002For AST 5 times greater than the upper limit of normal (ULN).\n10. Severe central nervous system symptoms urgent for intensive hospitalization judged by the investigator.\n11. Hemoglobin \\\u003C 90 g\u002FL.\n12. A history of epileptic seizures or other diseases that may potentially affect compliance with study procedures within 6 months prior to the screening period.\n13. Hepatitis B surface antigen (HBsAg) positive, hepatitis C virus (HCV) antibody positive, human immunodeficiency virus (HIV) antibody positive or Treponema pallidum antibody positive.\n14. Subjects with end-stage renal disease receiving dialysis (chronic kidney disease stage 3 and above) or creatinine clearance \\\u003C 60 mL\u002Fmin.\n15. Severe hyperlipidemia (triglycerides \\> 1000 mg\u002FdL).\n16. Subject received or plans to receive bone marrow transplantation, hematopoietic stem cell transplantation and\u002For major organ transplantation, including but not limited to liver transplantation, kidney transplantation, etc.\n17. Clinically diagnosed or judged as serious cardiovascular disease by the investigator (eg, classification of heart failure ≥ 3 according to New York Heart Association \\[NYHA\\]).\n18. Patients with uncontrolled concomitant diseases or infectious diseases as judged by the investigator.\n19. Subjects who have hypersensitivity to any component of LY-M003 injection.\n20. Subjects who have previously received gene therapy or cell therapy of any kind.\n21. Subjects who use systemic immunosuppressive agents or receive steroid therapy within 3 months prior to dosing (except for prophylactic immunosuppressive therapy as specified in protocol).\n22. Subjects with history of cancer within 5 years prior to screening, except for completely resected non-melanoma skin cancer, non-metastatic prostate cancer and completely cured ductal carcinoma in situ.\n23. Subjects who have vaccinated with attenuated live vaccine within 4 months prior to screening or plan to receive a live attenuated vaccine during the clinical trial.\n24. Subjects who have received treatment or disposition with another investigational drug or investigational device within 28 days or 5 half-lives (drug only), whichever is longer, prior to screening.\n25. Pregnant women (or women planning to become pregnant) or lactating women.\n26. Other circumstances in which the investigator deems the subject inappropriate for study participation.","10 Years","60 Years",{"count":105,"type":19},18,[107],"EARLY_PHASE1","Wilson's disease (WD), also known as Wilson's disease, is a rare autosomal recessive metabolic disorder caused by a mutation of the copper transport ATPase β (ATP7B) gene located on the long arm of chromosome 13 (13q14.3). This leads to accumulation of copper ions in multiple organs such as liver, brain and kidney, resulting in organ involvement. In this study, LY-M003 Injection is a gene therapy products with rAAV8 vector. After a single intravenous infusion, LY-M003 can be transduced to the target organ of liver and express the ATP7B in hepatocytese.",[24],[111],"Gene therapy",{"date":86,"type":31},{"date":114,"type":31},"2024-09-24",{"date":116,"type":19},"2030-03-30",{"name":118,"class":38},"Chaohui Yu",{"id":120,"slug":121,"hasResults":11,"nctId":122,"briefTitle":123,"officialTitle":124,"acronym":125,"eligibilityCriteria":126,"healthyVolunteers":11,"sex":16,"minAge":127,"maxAge":128,"enrollmentInfo":129,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":130,"conditions":131,"keywords":132,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":139,"completionDateStruct":141,"leadSponsor":143,"locationsCount":63},"100549157","circadian-variation-of-urinary-copper-excretion-in-wilson-disease-patients-100549157","NCT06430359","Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients","Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients Treated With Chelators or Zinc Salts","VARCUWIC","Inclusion Criteria:\n\n* Patients with a confirmed diagnosis of Wilson's Disease (Leipzig score ˃4).\n* Age ≥ 6 years and ≤70 years.\n* Patient able to perform 24h urine.\n* Current treatment with D-Pencillamine, Trientine or Zinc.\n* Non-opposition of patient and\u002For legal representatives for minor patients.\n\nExclusion Criteria:\n\n* Patients who had a change in treatment within the last 6 months before the inclusion\n* Patients who have undergone liver transplantation\n* Patients with known chronic renal failure (GFR \\\u003C 30 ml\u002Fmin)\n* Patients on long-term diuretic or corticosteroid therapy\n* Persons deprived of liberty by a judicial or administrative decision\n* Patient under judicial protection, unable to express consent","6 Years","70 Years",{"count":49,"type":19},"Wilson's disease (WD) is a genetic disorder characterized by an accumulation of copper in the body, mainly in the liver and brain. Patients suffering from this disease are monitored by liver function tests, blood copper levels, and 24-hour urinary copper determinations.\n\nTreatment is based either on chelating the copper accumulated in the body using D-penicillamine or Trientine or on limiting intestinal copper absorption with zinc salts.\n\nMonitoring copper elimination in urine collected over 24 hours is essential for estimating a patient's copper load, adapting treatment dosage, and detecting any copper deficiency.\n\nNevertheless, urine collection is often complicated for patients, given the obvious constraints of collecting urine over 24 hours. Without this, clinical decisions are usually made based on spot urine.\n\nThere is no official recommendation for monitoring urinary copper elimination other than on 24-hour urine.\n\nAccording to studies on healthy volunteers under physiological conditions, urinary copper elimination occurs according to a circadian rhythm, with minimal copper elimination between 8 pm and 4 am and maximum between 8 am and noon.\n\nThe study would aim to find the period of the day best correlated with 24h urinary copper excretion",[24],[133,134,135],"Wilson disease","urinary copper","chelator","2026-01-13",{"date":138,"type":31},"2026-01-15",{"date":140,"type":31},"2025-01-10",{"date":142,"type":19},"2027-02-10",{"name":144,"class":38},"Hospices Civils de Lyon",{"id":146,"slug":147,"hasResults":11,"nctId":148,"briefTitle":149,"officialTitle":150,"acronym":4,"eligibilityCriteria":151,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":152,"targetDuration":102,"studyType":21,"phases":4,"briefSummary":154,"conditions":155,"keywords":181,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":187,"lastUpdatePostDateStruct":188,"startDateStruct":190,"completionDateStruct":192,"leadSponsor":194,"locationsCount":63},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":153,"type":19},380,"The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,24,172,173,174,175,176,177,178,179,180],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[182,183,184,159,185,186,162,163,164,165,166,167,168,169,170,171,24,172,173,174,175,176,177,178,180],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":189,"type":31},"2026-01-14",{"date":191,"type":31},"2024-07-01",{"date":193,"type":19},"2034-12-31",{"name":195,"class":38},"Hospital Italiano de Buenos Aires",{"id":197,"slug":198,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":200,"acronym":201,"eligibilityCriteria":202,"healthyVolunteers":11,"sex":16,"minAge":203,"maxAge":4,"enrollmentInfo":204,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":206,"conditions":207,"keywords":4,"overallStatus":208,"whyStopped":4,"lastUpdateSubmitDate":209,"lastUpdatePostDateStruct":210,"startDateStruct":212,"completionDateStruct":214,"leadSponsor":216,"locationsCount":63},"100598738","description-of-renal-involvement-in-wilsons-disease-100598738","NCT07075393","Description of Renal Involvement in Wilson's Disease","WILKID","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","7 Years",{"count":205,"type":19},150,"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\u002For 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.",[24],"NOT_YET_RECRUITING","2025-12-09",{"date":211,"type":31},"2025-12-10",{"date":213,"type":19},"2026-02",{"date":215,"type":19},"2027-02",{"name":217,"class":218},"Fondation Ophtalmologique Adolphe de Rothschild","NETWORK",{"id":220,"slug":221,"hasResults":11,"nctId":222,"briefTitle":223,"officialTitle":223,"acronym":224,"eligibilityCriteria":225,"healthyVolunteers":71,"sex":16,"minAge":47,"maxAge":4,"enrollmentInfo":226,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":227,"conditions":228,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":209,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":236},"100473379","oral-health-and-wilsons-disease-somawi-100473379","NCT05444127","Oral Health and Wilson's Disease: SOMAWI","SOMAWI","Inclusion Criteria:\n\n* Express consent to participate in the study\n* Member of or beneficiary of a social security scheme\n* For cases: Affected by Wilson's disease\n* For controls: Benefiting from a first routine dental consultation with dental panoramic imaging, outside of an emergency context or treatment follow-up\u002Fmaintenance\n\nExclusion Criteria:\n\n* Patient benefiting from a legal protection measure\n* Pregnant or breastfeeding women\n* Severe psychiatric disorders with behavioral disorders\n* For cases:\n\n  * hepatic or neurological decompensation\n  * liver transplant patient\n* For witnesses:\n\n  * Patient with hepatic or neurological disease\n  * Patient taking dietary supplements enriched with copper or zinc or zinc supplementation\n  * Patient wearing removable prostheses with zinc-enriched prosthetic adhesives (Fixodent ProPlus®)",{"count":205,"type":19},"Patients with Wilson disease have poorer dental and periodontal health and a have lower oral quality of life than control patients. Patients with a neurological form would also more frequently present limitations in the function of the masticatory apparatus. Systemic treatments for Wilson disease are associated with lesions of the oral mucosa. Analysis of copper level in saliva could testify to the effectiveness of copper depletion in treated patients The main objective is to compare the state of dental health between: patients with Wilson disease in the hepatic form and patients with the neurological form, and a population of controls.",[24],{"date":230,"type":31},"2025-12-17",{"date":232,"type":31},"2023-05-17",{"date":234,"type":19},"2026-10",{"name":217,"class":218},3,{"id":238,"slug":239,"hasResults":11,"nctId":240,"briefTitle":241,"officialTitle":242,"acronym":4,"eligibilityCriteria":243,"healthyVolunteers":11,"sex":16,"minAge":47,"maxAge":4,"enrollmentInfo":244,"targetDuration":4,"studyType":75,"phases":246,"briefSummary":249,"conditions":250,"keywords":251,"overallStatus":208,"whyStopped":4,"lastUpdateSubmitDate":256,"lastUpdatePostDateStruct":257,"startDateStruct":259,"completionDateStruct":261,"leadSponsor":263,"locationsCount":63},"100606313","phase-1-phase-iii-clinical-study-to-evaluate-the-safety-tolerability-and-efficacy-of-gc310-injection-in-patients-with-wilsons-disease-wd-100606313","NCT07173933","Phase I\u002FII Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson's Disease (WD)","A Multicenter, Open-label, Single-dose, Dose-escalation Phase I\u002FII Clinical Trial Evaluating the Safety, Tolerability, and Efficacy of GC310 Adeno-associated Virus Injection in the Treatment of Patients With Wilson's Disease (WD)","Inclusion Criteria:\n\n* Aged ≥ 18 years, sex unrestricted;\n* Definitive diagnosis of Wilson disease (WD) based on:\n\n  (i) or (ii) + (iii) and (iv), or (i) or (ii) + (v); (i) Neurological and\u002For psychiatric symptoms; (ii) Unexplained liver injury; (iii) Reduced serum ceruloplasmin and\u002For elevated 24-hour urinary copper; (iv) Positive corneal Kayser-Fleischer (K-F) ring; (v) Biallelic pathogenic ATP7B variants confirmed by segregation analysis and variant pathogenicity assessment;\n* Serum ceruloplasmin concentration \\\u003C ½ × lower limit of normal (LLN);\n* Willing and able to comply with all study procedures, and has provided written informed consent.\n\nExclusion Criteria:\n\nSubjects meeting ANY of the following criteria will be excluded:\n\n1. Screening serum anti-AAV5 neutralizing antibody titre \\> 1:100.\n2. Clinically significant laboratory abnormality at screening or baseline:\n\n   1. ALT or AST ≥ 5 × ULN, direct bilirubin \\> 1 × ULN, or albumin \\\u003C 1 × LLN;\n   2. Blood ammonia \\> 1 × ULN.\n3. Renal impairment (any degree).\n4. Current hepatic decompensation or history of hepatic decompensation.\n5. Liver stiffness measurement (LSM) ≥ 15 kPa by transient elastography at screening.\n6. History of acute liver failure from any cause.\n7. Evidence of advanced liver disease defined by either:\n\n   1. MELD score ≥ 12, or\n   2. Child-Pugh score ≥ 7.\n8. Severe neuro-psychiatric manifestations that, in the investigator's opinion, could compromise subject safety or interfere with study participation.\n9. Positive for HIV antibody, hepatitis C antibody, Treponema pallidum antibody, or hepatitis B surface antigen.\n10. Contraindications to glucocorticoid therapy judged by the investigator (e.g., uncontrolled hypertension, systemic fungal infection, glaucoma, osteoporosis, active tuberculosis).\n11. Concurrent conditions that may interfere with study conduct or assessment, including significant gastrointestinal, cardiovascular, cerebrovascular, renal, endocrine, haematological, immunological, neurological or psychiatric disorders other than Wilson disease.\n12. Pregnant or lactating women.\n13. Women of child-bearing potential or fertile men who plan to conceive within 1 year after dosing or are unwilling to use highly effective contraception.\n14. Body-mass index ≥ 24 kg\u002Fm².\n15. History of severe hypersensitivity to foods or drugs, including recombinant proteins.\n16. Vaccination within 2 weeks prior to planned dosing.\n17. Prior exposure to any gene-therapy product.\n18. Participation in any other clinical trial (WD-related or not) within 3 months before screening.\n19. Any other condition or circumstance that, in the opinion of the investigator, renders the subject unsuitable for the study (e.g., poor compliance).",{"count":245,"type":19},15,[247,248],"PHASE1","PHASE2","The goal of this clinical trial is to learn if GC310 (AAV5-ATP7B) gene therapy can treat Wilson's Disease (WD) in patients over the age of 18 years old. The main questions it aims to answer are:\n\nIs GC310 safe and tolerable to WD patients? What is the recommended phase II dose (RP2D)? What is the change from baseline in 24-hour urinary copper concentration after 52 weeks of administration?\n\nParticipants will be administrated GC310 intravenously and be followed up for 52 weeks to observe drug safety, tolerability and efficacy .",[24],[252,253,254,255,24],"gene therapy","Genecradle","AAV5","ATP7B","2025-09-08",{"date":258,"type":31},"2025-09-15",{"date":260,"type":19},"2025-10",{"date":262,"type":19},"2027-10",{"name":264,"class":265},"GeneCradle Inc","INDUSTRY",{"id":267,"slug":268,"hasResults":11,"nctId":269,"briefTitle":270,"officialTitle":271,"acronym":272,"eligibilityCriteria":273,"healthyVolunteers":11,"sex":16,"minAge":274,"maxAge":275,"enrollmentInfo":276,"targetDuration":278,"studyType":21,"phases":4,"briefSummary":279,"conditions":280,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":281,"lastUpdatePostDateStruct":282,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":63},"100457075","french-wilson-disease-registry-100457075","NCT05231876","French Wilson Disease Registry","Registre Wilson France","WIL-FR","Inclusion Criteria:\n\n* All patients suffering from Wilson disease\n\nExclusion Criteria:\n\n* Lack of written consent from the patient or their legal representative","0 Years","99 Years",{"count":277,"type":19},1000,"20 Years","This registry concerns adults and children with Wilson's disease. The collection of a large amount of data will allow a better understanding of the epidemiology of this rare disease, in particular the age of onset according to the hepatic or hepato-neurological forms, but also the geographical distribution of patients consulting in France. This database will also make it possible to know all the therapies prescribed to \"Wilsonian\" patients. The genetic study of these patients will make it possible to specify the various genetic mutations involved in Wilson's disease. The information (clinical, biological, radiological and genetic) relating to the disease will be entered by a doctor or a professional specialising in Wilson's disease.",[24],"2024-12-03",{"date":283,"type":31},"2024-12-05",{"date":285,"type":31},"2005-01-01",{"date":287,"type":19},"2030-01-01",{"name":217,"class":218},{"id":290,"slug":291,"hasResults":11,"nctId":292,"briefTitle":293,"officialTitle":294,"acronym":4,"eligibilityCriteria":295,"healthyVolunteers":11,"sex":16,"minAge":296,"maxAge":47,"enrollmentInfo":297,"targetDuration":4,"studyType":75,"phases":299,"briefSummary":300,"conditions":301,"keywords":4,"overallStatus":208,"whyStopped":4,"lastUpdateSubmitDate":303,"lastUpdatePostDateStruct":304,"startDateStruct":306,"completionDateStruct":308,"leadSponsor":310,"locationsCount":63},"100569803","daily-versus-alternate-day-plasma-exchange-in-wilson-disease-with-acute-liver-failure-in-children-100569803","NCT06698991","Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children","Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children: A Randomized Controlled Trial","Inclusion Criteria:\n\n1. Wilson disease with New Wilson Index of ≥ 11 and INR ≥ 2.5\n2. Children aged 3 years to 18 years\n\nExclusion Criteria:\n\n1. Grade 3 or grade 4 hepatic encephalopathy\n2. Septic shock\n3. Disseminated intravascular coagulation\n4. Marked hemodynamic instability requiring a high dose of vasopressors (norepinephrine \\>0.5 mcg\u002Fkg\u002Fmin)\n5. Any severe cardio-pulmonary pre-existing disease","3 Years",{"count":298,"type":19},20,[77],"Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity. The standard therapy i.e chelation (with either D- penicillamine or trientene can be used as a temporizing agent to treat the enormous release of copper into the blood stream; however, substantial removal is not achieved for at least 1 to 3 months. Plasma exchange provides a means of rapid means of removal of copper. As per American Society for Apheresis, TPE in wilson disease with acute liver failure can rapidly remove an average of 20 mg of copper per TPE treatment. Decreased serum copper may decrease hemolysis, prevent progression of kidney failure and provide clinical stabilization. TPE can also remove large molecular weight toxins (aromatic amino acids, ammonia, endotoxins) and other factors, which may be responsible for hepatic coma. The frequency of said TPE is not defined as most evidence is based on case reports and case series.\n\nCopper is highly protein bound and the volume of distribution for copper is large. Under normal conditions, 90-95% of serum copper is ceruloplasmin-bound with the remaining 5-10% being nonceruloplasmin-bound. TPE efficiently removes both ceruloplasmin- and albumin-bound copper. FFP used for exchange can be helpful in treating the associated coagulopathy. TPE has been used as a bridge to liver transplantation as well as seen to improve survival with native liver, the optimum protocol for same remains uncertain.",[302,24],"Acute Liver Failure","2024-11-19",{"date":305,"type":31},"2024-11-21",{"date":307,"type":19},"2024-11-10",{"date":309,"type":19},"2026-12-31",{"name":311,"class":38},"Institute of Liver and Biliary Sciences, India",{"id":313,"slug":314,"hasResults":11,"nctId":315,"briefTitle":316,"officialTitle":317,"acronym":4,"eligibilityCriteria":318,"healthyVolunteers":11,"sex":16,"minAge":47,"maxAge":319,"enrollmentInfo":320,"targetDuration":4,"studyType":75,"phases":322,"briefSummary":323,"conditions":324,"keywords":4,"overallStatus":208,"whyStopped":4,"lastUpdateSubmitDate":325,"lastUpdatePostDateStruct":326,"startDateStruct":328,"completionDateStruct":330,"leadSponsor":332,"locationsCount":63},"100567107","an-exploratory-study-to-evaluate-the-tolerability-and-safety-of-mwav201-in-subjects-with-wilson-disease-100567107","NCT06663878","An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease","An Open-Label, Dose Escalation Study to Evaluate the Tolerability, Safety, and Preliminary Efficacy of MWAV201 in Subjects With Wilson Disease","Inclusion Criteria:\n\n* Male or female aged 18 and 65 years inclusive;\n* Confirmed diagnosis of Wilson disease;\n* Low copper diet and standardized medication for ≥ 1 year;\n* Stable Wilson disease for ≥ 1 year;\n* Able to understand and willing to follow study procedures.\n\nExclusion Criteria:\n\n* Significant hepatic inflammation as evidenced by liver function test.\n* Liver biopsy or liver stiffness measurement show progressive liver fibrosis.\n* Laboratory tests or clinical symptoms indicate decreased liver reserve function.\n* Other chronic liver disease (such as hepatitis B).\n* Any signs of decompensated liver function (such as ascites).\n* History of liver transplant or plan to receive liver transplant.\n* Other diseases with clinical significance, such as cardiovascular and cerebrovascular diseases, kidney diseases, respiratory system diseases, neurological diseases, mental illnesses, active infections, etc.\n* Body Mass Index ≥ 30 kg\u002Fm2.\n* Other conditions that, in the Investigator's opinion, may not be suitable for the subject to be enrolled.","65 Years",{"count":321,"type":19},9,[77],"The primary objective of this study is to evaluate the tolerability and safety of MWAV201 in patients with Wilson disease.",[24],"2024-10-27",{"date":327,"type":31},"2024-10-29",{"date":329,"type":19},"2024-10",{"date":331,"type":19},"2031-05",{"name":333,"class":38},"Xinhua Hospital, Shanghai Jiao Tong University School of Medicine",{"id":335,"slug":336,"hasResults":11,"nctId":337,"briefTitle":338,"officialTitle":339,"acronym":4,"eligibilityCriteria":340,"healthyVolunteers":11,"sex":16,"minAge":47,"maxAge":4,"enrollmentInfo":341,"targetDuration":102,"studyType":21,"phases":4,"briefSummary":343,"conditions":344,"keywords":345,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":348,"lastUpdatePostDateStruct":349,"startDateStruct":351,"completionDateStruct":353,"leadSponsor":355,"locationsCount":63},"100551915","spanish-wilson-disease-registry-100551915","NCT06466291","Spanish Wilson Disease Registry","Registro de Enfermedad de Wilson en España","Inclusion Criteria:\n\n* Patients with a confirmed Wilson Disease diagnosis\n\nExclusion Criteria:\n\n* Refusal to sign the informed consent for the study",{"count":342,"type":19},600,"The main objective and purpose of the Registry is to know the current status of Wilson Disease in Spain.\n\nAs secondary objectives, the prevalence and incidence of the disease will be analysed.\n\nLikewise, the analysis aims to define future areas of interest in its pathogenesis, diagnosis, natural history, follow-up, prognosis and treatment.\n\nImproving knowledge at a national level can help to design screening strategies and improve diagnostic circuits.",[24],[346,347,26,24],"Genetic disease","Registry","2024-06-14",{"date":350,"type":31},"2024-06-20",{"date":352,"type":31},"2021-12-02",{"date":354,"type":19},"2030-12",{"name":356,"class":38},"Asociación Española para el Estudio del Hígado",{"id":358,"slug":359,"hasResults":11,"nctId":360,"briefTitle":361,"officialTitle":361,"acronym":4,"eligibilityCriteria":362,"healthyVolunteers":11,"sex":16,"minAge":127,"maxAge":319,"enrollmentInfo":363,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":364,"conditions":365,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":366,"lastUpdatePostDateStruct":367,"startDateStruct":369,"completionDateStruct":371,"leadSponsor":372,"locationsCount":63},"100436613","role-for-biochemical-assays-and-kayser-fleischer-rings-in-diagnosis-of-wilson-disease-100436613","NCT04965545","Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease","Inclusion Criteria:\n\n* genetically diagnosed patients with wilson disease\n\nExclusion Criteria:\n\n* Deny follow-up",{"count":277,"type":19},"The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up",[24],"2021-07-11",{"date":368,"type":31},"2021-07-16",{"date":370,"type":31},"2004-01-01",{"date":287,"type":19},{"name":373,"class":38},"Second Affiliated Hospital, School of Medicine, Zhejiang University"]