[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"wilsons-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:wilsons-disease":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,10,0,[8,45,74,96,119,138,160,181,206,228],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":29,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100642688","phase-1-phase-iii-clinical-study-to-evaluate-the-safety-tolerability-and-efficacy-of-ly-m003-injection-in-adult-patients-with-wilsons-disease-100642688",false,"NCT07641140","Phase I\u002FII Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease","A Multicenter, Open, Single-arm, Single-dose, Phase I\u002FII Study Evaluating the Safety, Tolerability, and Efficacy of LY-M003 Injection in Adult Patients With Wilson's Disease","Inclusion Criteria:\n\n1. The subject fully comprehends the purpose, design, methods and possible adverse events of the study, agrees to participate voluntarily and signs the informed consent form (ICF).\n2. Patients with confirmed diagnosis of Wilson's disease (WD).\n3. Subjects with Wilson's disease (WD) confirmed by laboratory testing to have biallelic ATP7B gene mutation or deletion.\n4. The subjects are treated patients with Wilson's disease (WD) who have received standard therapy (e.g., D-penicillamine or zinc acetate) continuously for at least 6 months prior to screening.\n5. Subjects have maintained a low-copper diet for at least 6 consecutive months prior to screening and will continue this dietary restriction throughout the study.\n6. Subjects must agree to refrain from donating blood, organs, tissues or cells at any time after treatment.\n7. Female subjects of childbearing potential (WOCBP) must have a negative pregnancy test.\n8. Subjects and their partners must have no plans for pregnancy from screening through 6 months after study completion, and will voluntarily use effective contraception (e.g., abstinence, condoms). Subjects shall not plan to donate sperm or ova.\n\nExclusion Criteria:\n\n1. AAV8 neutralizing antibody titer \\> 1:10 .\n2. History of active gastrointestinal bleeding within the past 3 months.\n3. Decompensated liver cirrhosis or advanced liver disease presenting with portal hypertension, ascites, splenomegaly, esophageal varices, hepatic encephalopathy, etc.\n4. Subjects with other concomitant liver diseases as judged by the investigator, including autoimmune hepatitis, alcoholic liver disease, primary biliary cholangitis, primary sclerosing cholangitis, and\u002For drug- or toxin-induced liver disease.\n5. Subjects with severe hypersplenism complicated and requiring splenectomy as assessed 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. A history of non-compliance with copper chelators or zinc agents as assessed by the investigator within 6 months prior to screening.\n9. Previously treated WD subjects with ALT and\u002For AST levels more than 5 times the upper limit of normal (ULN).\n10. Subjects with severe neurological deficits or impairments that, in the investigator's judgment, compromise their safety and\u002For ability to participate in the study.\n11. Hemoglobin \\\u003C 90g\u002FL.\n12. Subjects with positive hepatitis B surface antigen (HBsAg), positive hepatitis C virus (HCV) antibody, positive human immunodeficiency virus (HIV) antibody or positive treponema pallidum antibody.\n13. Subjects with end-stage renal disease on dialysis (Chronic Kidney Disease Stage 3 and above), or creatinine clearance \\\u003C 60 mL\u002Fmin.\n14. Severe hyperlipidemia (triglycerides \\>1000 mg\u002FdL);\n15. Subjects who have received or plan to undergo bone marrow transplantation, hematopoietic stem cell transplantation and\u002For major organ transplantation, including but not limited to liver transplantation and renal transplantation.\n16. Subjects with clinically diagnosed severe cardiovascular diseases or those deemed by the investigator to have such conditions (e.g., New York Heart Association \\[NYHA\\] heart failure classification ≥ Class 3).\n17. Subjects with uncontrolled concomitant diseases or infectious diseases as assessed by the investigator.\n18. Subjects who are allergic to any ingredient of LY-M003 Injection.\n19. Prior receipt of any type of gene therapy or cell therapy.\n20. Use of systemic immunosuppressants or steroids within 3 months prior to administration (except for prophylactic immunosuppressive therapy specified in the protocol).\n21. History of cancer within 5 years prior to screening, excluding completely resected non-melanoma skin cancer, non-metastatic prostate cancer and fully cured ductal carcinoma in situ.\n22. Received live attenuated vaccines within 4 months prior to screening, or planned to receive such vaccines during the clinical trial.\n23. Received treatment or intervention with other investigational drugs or study devices within 28 days or 5 half-lives (for drugs only) prior to screening, whichever is longer.\n24. Pregnant women (or women planning pregnancy) or breastfeeding women.\n25. Other conditions that, in the investigator's opinion, render the subject ineligible for study participation.","ALL","18 Years","60 Years",{"count":20,"type":21},18,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","This is a multicenter, open-label, single-arm, single-dose Phase I\u002FII clinical study. It aims to evaluate the safety, tolerability, efficacy, immunogenicity, pharmacodynamic (PD) and pharmacokinetic (PK) profiles of LY-M003 Injection in patients with Wilson's Disease (WD).",[28],"Wilson's Disease",[28,30,31],"LY-M003 Injection","Gene Therapy","NOT_YET_RECRUITING","2026-06-30",{"date":35,"type":36},"2026-07-02","ACTUAL",{"date":38,"type":21},"2026-06-15",{"date":40,"type":21},"2032-12-30",{"name":42,"class":43},"Lingyi Biotech Co., Ltd.","INDUSTRY",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":50,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":52,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":55,"briefSummary":57,"conditions":58,"keywords":59,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":73},"100628751","phase-3-trientine-tetrahydrochloride-administered-once-a-day-for-the-first-line-treatment-of-wilsons-disease-patients-100628751","NCT07465718","Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson's Disease Patients.","TRADITiONAL","Inclusion Criteria:\n\n1. Participant is aged 8 years or older and is willing and able to give informed consent for participation in the study, or by a parent\u002Flegally authorized representative (LAR) and assent obtained (in accordance with local regulations) for any participant less than the age of majority (e.g. less than 18 years of age, depending on local requirements).\n2. Participant has a body weight of at least 25 kg at screening.\n3. Participant has a diagnosis of WD, as defined by a Leipzig score of greater than or equal to 4. Note that historical test results can be used for the diagnosis.\n4. Participant has either:\n\n   1. Received no prior prescribed therapy \\[a\\] for the treatment of WD (treatment-naïve), or\n   2. Received no prescribed chelator therapy \\[a\\] for the treatment of WD (chelator-naïve); zinc salts are permitted for no more than 28 days prior to the start of screening assessments, and these participants must be symptomatic.\n\n   \\[a\\] prescribed therapy for WD refers to the authorized chelator treatments of trientine (TETA 2HCl or TETA 4HCl) and DPA, or zinc salts.\n5. Able and willing to comply with study procedures and requirements, as described in the informed consent.\n6. Adequate venous access to allow collection of required blood samples.\n7. Willing to comply with low copper diet for the duration of the study.\n8. Participant requires treatment for WD, in the opinion of the Investigator.\n9. Participant is able to take the study medication as prescribed, in the opinion of the Investigator.\n\nExclusion Criteria:\n\n1. Any known contraindications for treatment with DPA.\n2. Any known contraindications for treatment with TETA 4HCl.\n3. Unable to swallow tablets\u002Fcapsules independently or considered high risk for aspiration, in the opinion of the Investigator\n4. Acute liver failure (ALF) or at high risk of ALF, in the opinion of the Investigator.\n5. Decompensated hepatic cirrhosis, in the opinion of the Investigator.\n6. Participants 12 years or older at screening, Model for End stage Liver Disease (MELD) score of greater than or equal to 12.\n7. Participants 8 to 11 years at screening, Model for Pediatric End stage Liver Disease (PELD) of greater than or equal to 10\n8. Hemoglobin of less than or equal to 9 g\u002FdL.\n9. Estimated glomerular filtration rate (eGFR) of less than 30 mL\u002Fmin\u002F1.73m²\n10. Nephritis or nephrotic syndrome, in the opinion of the Investigator.\n11. Alanine aminotransferase greater than 5 times upper limit of normal (ULN).\n12. Severe pulmonary disease requiring home nebulization and\u002For home oxygen therapy.\n13. Clinically significant gastrointestinal bleed within past 6-months.\n14. Neurological disease requiring either nasogastric feeding or intensive inpatient medical care.\n15. Active or history of seizures requiring anti-epileptics within 6 months prior to informed consent.\n16. Active infection with hepatitis B virus (positive hepatitis B surface antigen) or C virus or seropositivity for human immunodeficiency virus (HIV).\n17. Major systemic disease or other illness that would, in the opinion of the Investigator, compromise patient safety or interfere with the collection or interpretation of the study results.\n18. Female participants of childbearing potential, currently pregnant, currently nursing, or planning a pregnancy during study period.\n19. Female participants of childbearing potential, unable or unwilling to use a reliable form of contraceptive throughout the study.\n20. Male participants, unable or unwilling to use a reliable form of contraceptive throughout the study.\n21. Participant is not willing to comply with the prohibited medication requirements for the study.\n22. In the opinion of the Investigator, the participant is likely to be non-compliant or uncooperative for the required study visits or study assessments, or has any disease, disability, illness or abnormal laboratory values that could compromise patient safety or interfere with the collection or interpretation of study results.","8 Years",{"count":54,"type":21},38,[56],"PHASE3","The goal of this clinical trial is to learn if a new trientine tetrahydrochloride (TETA 4HCl) formulation administered once a day compared to d-Penicillamine (DPA) as a first line treatment for people living with Wilson's disease (WD) is effective and safe. The study is enrolling children aged 8 years and older weighing at least 55 lb (25 kg) and adults with a recent diagnosis of WD. People recently diagnosed with WD, may be eligible for the study if they have either not started copper chelating treatment (such as DPA or trientine) or have been taking zinc salts for less than 28 days. Participants will be randomly allocated (like tossing a coin) to receive either DPA or TETA 4HCL for 48 weeks. During this time period participants will have up to 12 visits for health checks and assessments including blood and urine testing. In addition, at some visits participants may be asked to complete questionnaires on treatment satisfaction, and overall well-being.",[28],[60,61,62,63],"trientine","randomized controlled trial","d-Penicillamine","Phase 3","2026-05-27",{"date":66,"type":36},"2026-05-28",{"date":68,"type":21},"2026-07",{"date":70,"type":21},"2028-02",{"name":72,"class":43},"Orphalan",3,{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":78,"acronym":4,"eligibilityCriteria":79,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":80,"targetDuration":4,"studyType":22,"phases":81,"briefSummary":83,"conditions":84,"keywords":4,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":44},"100611462","early-phase-1-a-clinical-study-on-the-treatment-of-wilson-disease-with-atp7b-mrnalnp-dsl101-100611462","NCT07240896","A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA\u002FLNP (DSL101)","Inclusion Criteria:\n\n1. Age ≥18 years old, gender not limited.\n2. Meet the diagnostic criteria f Wilson's Disease in \"Guidelines for Diagnosis and Treatment of Wilson's Disease (2022 Edition)\", with a Leipzig score ≥4, at least one year between diagnosis and screening; ceruloplasmin level \\\u003C0.1g\u002FL.\n3. Patinets with Wilson's disease confirmed by laboratory tests to have double-chromosome mutations in the ATP7B gene.\n4. Low copper diet for at least six months befoer screening and willing to continue low copper diet during study.\n5. Fertile subjects agreed to adopt reliable contrraceptive methods from the screening until 6 months after the last administration.\n6. The subjects are atable patients with WD who have been trasted for at least six months without drug or dose changes for at least 6 momths at the time of screening , and have continuously used standard treatments \\[SOC, such as D-penicillamine, sodiu dihydroxypropane sulfonate, dimercaptosuccinic acid, trientine, and zinc preparations (zinc acetate, zinc gluconate, zinc sulfate)\\] for at least 6 months screening, and allowed subjects to continue with their prior SOC treatment.\n7. The subject's condition was fully controlled after treatment, and its definition must meet all of the following conditions:\n\n   1. Serum NCC level ≥ 25 μg\u002FL and ≤ 150 μg\u002FL;\n   2. Urinary copper ≥100 μg\u002F24 hours and ≤900 μg\u002F24 hours;;\n   3. ALT \\\u003C 2 times of upper limit of normal value (ULN);\n   4. The investigator believes that no other laboratory values or clinical symptoms would stop current standard therapy;\n8. Subjects with good compliance, who can understand and cooperate to complete the requirements of protocol.\n9. The subjects voluntarily participated in the trial and signed the informed consent form.\n\nExclusion Criteria:\n\n1. Allergy or intolerance to the investigational drug.\n2. Wilson's disease is accompanied by severe complications such as neurological and mental disorders.\n3. History of liver transplantation.\n4. Other liver-related diseases and clinical symptoms that can cause liver injury, such as acute and chronic hepatitis, alcoholic liver disease, autoimmune liver disease, drug-induced liver injury, liver cirrhosis, liver ascites, esophageal varices, hepatic encephalopathy, hepatorenal syndrome, liver failure, liver malignancy, etc.; Subjects with Model for end-stage liver disease score (MELD)\\>13.\n5. Other diseases that can cause hemolysis or anemia, such as erythrocytosis, Mediterranean anemia, hemolytic anemia, various causes of infection, large area burns, etc.\n6. Other diseases that can cause dysfunction of the nervous system, such as Parkinson's disease, Parkinson syndrome, various causes of dystonia, chorea, primary tremor, epilepsy, mental abnormalities (such as history of schizophrenia or suicide attempts), etc.\n7. Screening period laboratory examination indicators:\n\n   1. Hemoglobin \\\u003C 90 g\u002FL;\n   2. Creatinine clearance ≤30 mL\u002Fmin, or glomerular filtration rate \\\u003C45 mL\u002Fmin\u002F1.73 m²;\n   3. TBil≥2×ULN，ALP\u002FTBil\\\u003C4，AST\u002FALT\\>2.2;\n   4. Platelets \\\u003C 70 ×10\\^9\u002FL;\n   5. Neutrophils \\\u003C 1.0 × 10\\^9 \u002FL.\n8. History of gastrointestinal bleeding within six months before screening.\n9. Subjects with history of moderate to severe depression, suicidal thoughts or behaviors and serious psychiatric within 6 months prior to screening.\n10. Subjects who have uncontrolled diseases of thr heart, liver, kidneys, endocrine system, digestive tract, metabolism, blood, or malignant tumors.\n11. Active hepatitis B virus infection or active hepatitis C virus infection, or human immunodeficiency virus antibody positive.\n12. Pregnant women or lactating women.\n13. Subjects who have participated other clinical trial within 3 months prior to screening or plan to participate during the clinical trial.\n14. Investigators evaluate other subjects who are not suitable to participate in this clinical trial.",{"count":20,"type":21},[82],"EARLY_PHASE1","This study adopted an open, single-arm, non-randomized, dose-escalation research design, aiming to evaluate the safety, tolerability, preliminary efficacy, pharmacokinetic and immunogenicity characteristics of single and multiple intravenous infusions of DSL101 in patients with Wilson's disease.",[85],"Wilsons Disease","RECRUITING","2026-01-15",{"date":89,"type":36},"2026-01-20",{"date":91,"type":36},"2025-12-31",{"date":93,"type":21},"2029-04",{"name":95,"class":43},"DSciLab Co., Ltd.",{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":100,"acronym":101,"eligibilityCriteria":102,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":103,"targetDuration":4,"studyType":22,"phases":105,"briefSummary":107,"conditions":108,"keywords":4,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":110,"startDateStruct":112,"completionDateStruct":114,"leadSponsor":116,"locationsCount":44},"100477180","cardiac-involvement-in-wilsons-disease-100477180","NCT05493605","Cardiac Involvement in Wilson's Disease","WIL-HEART","Inclusion Criteria:\n\n* Adult patient with Wilson's disease confirmed by a Leipzig score ≥ 4\n* Express consent to participate in the study by the patient or legal guardian in the case of patients under guardianship or by the patient assisted by his curator in the case of patients under guardianship\n* Member of or beneficiary of a Social Security scheme\n\nExclusion Criteria:\n\n* Absolute or relative contraindication to MRI or contrast media\n* Pregnant, parturient or breast-feeding women: a urine pregnancy test will be carried out in women of childbearing age\n* Patient with hepatic decompensation (Child-Pugh score stage C)\n* Patient in neuro-psychiatric decompensation",{"count":104,"type":21},150,[106],"NA","Heart damage by copper accumulation has been reported in Wilson's Disease. However, the disease epidemiology is still poorly understood. A number of studies on pediatric populations have not shown any significant cardiac involvement apart from early dysautonomia. This could suggest that the clinical manifestations related to the copper accumulation in the heart appears with the duration of the disease. Case-control studies on adult populations have highlighted various electrocardiographic (ECG) abnormalities more frequent in patients with Wilson's Disease than in healthy volunteers, but all these studies involved small number of patients (maximum 60). The hypothesis is that there is cardiac involvement in Wilson's Disease, requiring screening, follow-up and appropriate support.",[28],"2025-12-09",{"date":111,"type":36},"2025-12-17",{"date":113,"type":36},"2023-03-02",{"date":115,"type":21},"2026-03",{"name":117,"class":118},"Fondation Ophtalmologique Adolphe de Rothschild","NETWORK",{"id":120,"slug":121,"hasResults":11,"nctId":122,"briefTitle":123,"officialTitle":123,"acronym":124,"eligibilityCriteria":125,"healthyVolunteers":11,"sex":126,"minAge":17,"maxAge":4,"enrollmentInfo":127,"targetDuration":4,"studyType":22,"phases":129,"briefSummary":130,"conditions":131,"keywords":4,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":109,"lastUpdatePostDateStruct":132,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":44},"100453332","description-of-the-copper-concentration-in-breast-milk-in-women-treated-for-wilsons-disease-100453332","NCT05183165","Description of the Copper Concentration in Breast Milk in Women Treated for Wilson's Disease","WILLACT","Criteria for inclusion :\n\n* Patient aged 18 years or over.\n* Wilson's disease fulfilling the criteria for the Leipzig score\n* Pregnancy in progress whatever the term.\n* Express consent to participate in the study.\n* Affiliate or beneficiary of a social security system.\n\nCriteria for non-inclusion :\n\n* Liver transplant patient\n* No affiliation to Social Security system\n* VuInability to give free and informed consent\n* Patient benefiting from a legal protection measure","FEMALE",{"count":128,"type":21},20,[106],"Wilson's disease is a rare genetic disease, affecting less than 1,500 people in France. The transmission is autosomal recessive linked to an anomaly of the ATP7B gene on chromosome.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member.This gene codes for an ATPase-type transmembrane protein involved in the transport of copper through the cell plasma member. If there is no mutation, this ATPase incorporates copper into apo-ceruloplasmin to be released into the blood serum. The mutation of the ATP7B gene results in a defective biliary excretion of copper, leading to its accumulation in the liver, but also in other organs such as the eye or the brain. Advances in treatment have dramatically changed the prognosis for Wilson's disease, making the desire for pregnancy more confident.\n\nThe consensus is to maintain treatment during pregnancy, reducing the dosage to limit teratogenicity as well as the risk of fetal copper deficiency.The mammary gland is the primary site of copper metabolism in lactation, and ATPase 7B is the primary effector.\n\nIt has been shown in a mouse model of Wilson's disease (ATP7B - \u002F - mouse) with treatment, that mothers accumulate copper in the liver but also in the mammary gland.\n\nHowever, a recent study showed that the copper level in breast milk was normal in 18 Wilsonian patients treated with D-penicillamine, trientine salts or zinc salts, suggesting that breastfeeding is possible in these patients without risk to the development of the infants.The problem of breastfeeding newborns for patients with Wilson's disease is therefore associated with a risk of copper deficiency in the newborn due to insufficiently rich breast milk in copper due to drugs.\n\nIn addition, the passage into breast milk of treatments is not sufficiently known.\n\nThese factors make breastfeeding not currently recommended for Wilsonian mothers,However, many patients wish to breastfeed and some of them breastfeed their newborns despite the risk of breastfeeding",[28],{"date":111,"type":36},{"date":134,"type":36},"2022-05-11",{"date":136,"type":21},"2026-08",{"name":117,"class":118},{"id":139,"slug":140,"hasResults":11,"nctId":141,"briefTitle":142,"officialTitle":142,"acronym":4,"eligibilityCriteria":143,"healthyVolunteers":11,"sex":16,"minAge":144,"maxAge":4,"enrollmentInfo":145,"targetDuration":4,"studyType":147,"phases":4,"briefSummary":148,"conditions":149,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":4},"100611534","multifaceted-assessment-of-patients-with-wilsons-disease-in-a-low-resource-setting-in-upper-egypt-service-integration-psychosocial-burden-dietary-practices-and-the-geo-spatial-disease-map-100611534","NCT07241832","Multifaceted Assessment of Patients With Wilson's Disease in a Low-Resource Setting in Upper Egypt: Service Integration, Psychosocial Burden, Dietary Practices, and the Geo-Spatial Disease Map","Inclusion Criteria:\n\n* Patients aged 12 years and older with a confirmed diagnosis of Wilson's Disease based on clinical, biochemical, radiological, slit-lap examination and genetic criteria, who are on regular follow up at Assiut Liver Center, and the Specialized Wilson's Disease Clinic.\n* Patients who are clinically stable and able to participate in interviews or complete surveys.\n\nExclusion Criteria:\n\n* Patients experiencing acute hepatic or neurological decompensation at the time of recruitment.\n* Individuals with cognitive impairments that preclude informed consent or meaningful participation.\n* Patients or caregivers who refuse to provide consent.","12 Years",{"count":146,"type":21},66,"OBSERVATIONAL","Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism, caused by mutations in the \\*ATP7B\\* gene, leading to impaired copper metabolism and toxic accumulation in many organs including the liver, brain, and cornea with subsequent hepatic and neuropsychiatric manifestations (Członkowska et al., 2018). Early diagnosis and adherence to lifelong dietary restrictions and chelation therapy are critical to prevent irreversible damage (Wang et al., 2017). WD is one of the few inborn metabolic diseases that can be successfully treated, and its complications can be prevented especially if diagnosed early and managed properly (Członkowska et al., 2018). However, in low-resource settings, patients often face barriers such as delayed diagnosis, poor awareness, limited access to care, and financial constraints (Miloh et al., 2018).\n\nThe long-term nature of the disease, possibility of debilitating symptoms, requirement of life-long and daily oral intake of medicines, life-long avoidance of copper-rich foods, frequent visits to the doctor\u002Fhospitals and the need for regular investigations impact the day-to-day physical and emotional functioning of these patients, their social lives and interpersonal relationships (Unavane et al., 2022). WD affects the quality of life of not only the patients but also their families, and the impact on patients with neuro-WD is worse than that of patients with hepatic disease (Unavane et al., 2022).\n\nDespite treatment being occasionally available, patient adherence remains suboptimal due to a range of psychosocial, geographic, behavioral, and economic barriers (Członkowska et al., 2018). Numerous studies suggest that concordance with drug therapy including compliance (taking the prescribed dose), persistence (continuing treatment over time), and adherence (following timing and dietary instructions for medication intake (Cramer et al., 2008; Masełbas et al., 2010) is particularly poor among individuals with chronic illnesses. These challenges, which also affect patients' families, significantly hinder treatment outcomes (Masełbas et al., 2010). There is a paucity of research exploring these dimensions in low- or medium-income countries, particularly in the Middle East and North Africa (MENA) region.\n\nDespite the clinical importance of WD, there is a significant research gap in understanding the lived experiences of Upper Egyptian patients and their families. Specifically, there is limited data on knowledge, attitudes, behaviors and perceived barriers (KAB-pB) related to WD, which are essential for effective disease management and public health interventions. Health literacy and cultural beliefs often shape how patients perceive their illness, adhere to treatment, and engage with healthcare providers. In Upper Egypt, where educational and socioeconomic disparities persist, assessing KAB-B can illuminate barriers to care and inform targeted educational strategies. Moreover, caregiver burden, which is often overlooked in chronic disease research, plays a pivotal role in patient outcomes and deserves focused attention (Adelman et al., 2014; Albani et al., 2024; Macharia et al., 2023).\n\nGeographic access to care is another pressing concern. Patients from remote areas must travel long distances to reach the WD specialized centers facing high transportation costs, unreliable transit options, and logistical challenges that can delay diagnosis and treatment (Mseke et al., 2024). Mapping the geographic distribution of patients and their travel patterns will provide critical insights into healthcare inequities and support the development of decentralized or mobile care models. Additionally, for genetic disease like WD, geographic distribution gives insights into disease clustering of foci of mutations or social behaviors like increased consanguinity (Ferenci, 2006; Gomes \\& Dedoussis, 2016). These findings can guide policymakers in designing more equitable healthcare systems that accommodate the needs of rare disease populations.\n\nDietary management is central to WD treatment, as patients must avoid copper-rich foods such as legumes (like peas, lentils, barley, millet, wheat, bran, and fava beans), nuts, fresh sweet potatoes, in addition to chocolate shellfish, liver, and commercially dried fruits (Li et al., 2022). It is well-known that traditional Egyptian diets - especially in rural communities - often include the above legumes due to cultural preferences and economic constraints. Therefore, understanding how patients navigate these dietary restrictions within their cultural and financial realities is essential for crafting practical, culturally sensitive nutritional guidelines (Nemec, 2020). Additionally, the psychosocial burden of WD including stigma, emotional distress, and coping mechanisms remains underexplored in Upper Egypt. Studies from other contexts suggest that chronic neurological and psychiatric manifestations include depression, personality changes, and cognitive",[28],"2025-11-17",{"date":152,"type":36},"2025-11-21",{"date":154,"type":21},"2025-12-01",{"date":156,"type":21},"2026-12-01",{"name":158,"class":159},"Assiut University","OTHER",{"id":161,"slug":162,"hasResults":11,"nctId":163,"briefTitle":164,"officialTitle":165,"acronym":4,"eligibilityCriteria":166,"healthyVolunteers":11,"sex":16,"minAge":167,"maxAge":17,"enrollmentInfo":168,"targetDuration":4,"studyType":147,"phases":4,"briefSummary":170,"conditions":171,"keywords":172,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":174,"lastUpdatePostDateStruct":175,"startDateStruct":177,"completionDateStruct":178,"leadSponsor":180,"locationsCount":4},"100608977","endocrine-dysfunction-in-pediatric-wilsons-disease-100608977","NCT07208565","Endocrine Dysfunction in Pediatric Wilson's Disease","A Cross-sectional Study of Endocrine Changes in Children With Wilson's Disease at Assiut University Children's Hospital","Inclusion Criteria:\n\n* Children aged 3-18 years\n\nConfirmed diagnosis of Wilson's disease (based on clinical features, biochemical markers such as serum ceruloplasmin and 24-hour urinary copper)\n\nBoth newly diagnosed and treated patients (chelation\u002Fzinc therapy)\n\nInformed consent from parents or guardians\n\nExclusion Criteria:\n\n* Congenital or acquired endocrine disorders unrelated to WD (e.g., congenital hypothyroidism, pituitary tumors)\n\nConcurrent use of medications affecting hormonal function unless prescribed for WD (steroids, thyroid replacements, contraceptives)\n\nChronic systemic illnesses that confound endocrine assessment (e.g., malignancy, chronic renal failure)","3 Years",{"count":169,"type":21},30,"This cross-sectional study investigates endocrine changes in children diagnosed with Wilson's disease, aiming to characterize hormonal dysfunctions affecting pituitary, thyroid, adrenal, and gonadal axes.",[28],[173],"Wilson's","2025-09-28",{"date":176,"type":36},"2025-10-06",{"date":33,"type":21},{"date":179,"type":21},"2027-12-30",{"name":158,"class":159},{"id":182,"slug":183,"hasResults":11,"nctId":184,"briefTitle":185,"officialTitle":185,"acronym":4,"eligibilityCriteria":186,"healthyVolunteers":11,"sex":16,"minAge":144,"maxAge":4,"enrollmentInfo":187,"targetDuration":189,"studyType":147,"phases":4,"briefSummary":190,"conditions":191,"keywords":192,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":197,"lastUpdatePostDateStruct":198,"startDateStruct":200,"completionDateStruct":202,"leadSponsor":204,"locationsCount":205},"100457688","international-wilsons-disease-patient-registry-iwilson-registry-100457688","NCT05239858","International Wilson's Disease Patient Registry (iWilson Registry)","Inclusion Criteria:\n\n1. Patient is able to provide, and has provided, written informed consent\u002Fassent\n2. Written documentation has been obtained in accordance with the relevant country and local privacy requirements, where applicable, including:\n\n   1. For US sites: Authorization for Use and Release of Health Research Study Information\n   2. For EU sites: Data Protection Consent\n3. All patients diagnosed with WD including pre-symptomatic individuals and individuals with co-morbidities\u002Fdiagnoses\n4. Any treatments including prescribed and homeopathic\u002Ftraditional therapies or naive patients on no therapy\n\nExclusion Criteria:\n\n1\\. Refusal of informed consent by either patient or their legally acceptable guardian",{"count":188,"type":21},500,"5 Years","Longitudinal, observational, non-interventional, standard of care Registry. Data will be collected from the routinely scheduled WD clinic visits at approximately 6-12 month intervals. At enrolment, in addition to data from the clinic visit, retrospective data will be collected from the diagnostic evaluation and any relevant past medical history and a summary of WD medication history.",[28],[60,62,193,194,195,196],"ATP7B","hepatolenticular degeneration","copper metabolism","zinc","2025-06-30",{"date":199,"type":36},"2025-07-03",{"date":201,"type":36},"2022-06-29",{"date":203,"type":21},"2027-12",{"name":72,"class":43},16,{"id":207,"slug":208,"hasResults":11,"nctId":209,"briefTitle":210,"officialTitle":210,"acronym":173,"eligibilityCriteria":211,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":212,"targetDuration":189,"studyType":147,"phases":4,"briefSummary":214,"conditions":215,"keywords":217,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":220,"lastUpdatePostDateStruct":221,"startDateStruct":223,"completionDateStruct":225,"leadSponsor":227,"locationsCount":4},"100520067","early-detection-of-cardiac-affection-in-patients-of-wilsons-disease-100520067","NCT06051734","Early Detection of Cardiac Affection in Patients of Wilson's Disease","Inclusion Criteria:\n\n* All patients diagnosed with Wilson's\n\nExclusion Criteria:\n\n* Claustrophobia\n* Refusal to share information\n* Heart failure",{"count":213,"type":21},50,"Wilson disease (WD) is a rare autosomal recessive disorder caused by a genetic defect in ATP7B resulting in limited excretion of excess copper into the bile Pathological copper accumulation occurs in the entire body, with the liver and the brain being primarily affected",[216,28],"Cardiovascular Diseases",[173,218,219],"CMR","Cardiac magnetic resonance","2023-09-21",{"date":222,"type":36},"2023-09-25",{"date":224,"type":21},"2023-10-01",{"date":226,"type":21},"2029-09-30",{"name":158,"class":159},{"id":229,"slug":230,"hasResults":11,"nctId":231,"briefTitle":232,"officialTitle":232,"acronym":4,"eligibilityCriteria":233,"healthyVolunteers":234,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":235,"targetDuration":4,"studyType":147,"phases":4,"briefSummary":237,"conditions":238,"keywords":239,"overallStatus":86,"whyStopped":4,"lastUpdateSubmitDate":242,"lastUpdatePostDateStruct":243,"startDateStruct":245,"completionDateStruct":247,"leadSponsor":249,"locationsCount":44},"100363472","a-registered-cohort-study-on-wilsons-disease-100363472","NCT04012658","A Registered Cohort Study on Wilson's Disease","Inclusion Criteria:\n\n* Patients with the genetic diagnosis of Wilson's Disease\n* Asymptomatic Wilson's Disease carriers\n* Relatives of Wilson's Disease patients or carriers\n* Unrelated healthy controls\n* Participants or Parent(s)\u002Flegal guardian(s) willing and able to complete the informed consent process\n\nExclusion Criteria:\n\n\\* Participants are unable to comply with study procedures and visit schedule",true,{"count":236,"type":21},2000,"The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of patients with Wilson's Disease to optimize clinical management.",[28],[28,240,241],"Nature history","Genetics","2019-09-19",{"date":244,"type":36},"2019-09-23",{"date":246,"type":36},"2019-07-01",{"date":248,"type":21},"2049-12",{"name":250,"class":159},"Wan-Jin Chen"]