Clinical Trials for Wilson Disease

Source: ClinicalTrials.gov — U.S. National Library of Medicine — A database of privately and publicly funded clinical studies conducted around the world (U.S. National Library of Medicine, public domain).

This page lists clinical trials related to Wilson Disease from the ClinicalTrials.gov database.

Trial Summary

• Total studies: 50
• Recruiting: 15
• Active, not recruiting: 5
• Completed: 13
• Other: 17

Results are refreshed periodically and may not reflect the most current information available from ClinicalTrials.gov.

Recruiting Trials

NCT05231876 — French Wilson Disease Registry

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 th…

NCT03334292 — Natural History of Wilson Disease

The purpose of the registry/repository 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.

NCT04880356 — Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.

NCT06466291 — Spanish Wilson Disease Registry

The main objective and purpose of the Registry is to know the current status of Wilson Disease in Spain.

As secondary objectives, the prevalence and incidence of the disease will be analysed.

Likewise, the analysis aims to define future areas of interest in its pathogenesis, diagnosis, natural history, follow-up, prognosis and treatment.

Improving knowledge at a national level can help to de…

NCT05183165 — Description of the Copper Concentration in Breast Milk in Women Treated for Wilson’s Disease

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…

NCT05239858 — International Wilson’s Disease Patient Registry (iWilson Registry)

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.

NCT05493605 — Cardiac Involvement in Wilson’s Disease

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 …

NCT05444127 — Oral Health and Wilson’s Disease: SOMAWI

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…

NCT06573723 — Institutional Registry of Rare Diseases

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).

Moreover, 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 populati…

NCT06650319 — A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease

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 thera…

NCT06430359 — Circadian Variation of Urinary Copper Excretion in Wilson Disease Patients

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.

Treatment is based either on chelating the copper accumulated in the body using D-penicillamine or Trientine or on limiting i…

NCT06858670 — Effectiveness of Auxiliary Segmental Lingual Appliances in Leveling the Curve of Wilson at Second Molars

This study aims to evaluate the effectiveness of auxiliary segmental lingual appliances in leveling the Curve of Wilson at the second molars in patients undergoing labial fixed orthodontic treatment. Patients exhibiting an excessive (deep) Curve of Wilson at the second molar bilaterally (meaning lingually inclined mandibular second molar) will be recruited.. Using a split-mouth design, one side…

NCT06945081 — Wilson’s Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity

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.

Currently, the first-line treatment for this disease is D-Penicillamine, which acts by ch…

NCT07240896 — A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)

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.

NCT07301216 — Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study

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 syste…

Active, Not Recruiting

NCT02252380 — ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders

The proposed study is to evaluate the effectiveness of ExAblate Transcranial MRgFUS as a tool for creating a unilateral lesion in the Vim thalamus or the globus pallidus (GPi) in patients with treatment-refractory symptoms of movement disorders.

NCT03655223 — Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health condi…

NCT04537377 — A Phase I/II Study of VTX-801 in Adult Patients With Wilson’s Disease

The objectives of this clinical trial are to assess, for up to 5 years, the safety, tolerability and pharmacological activity of a single ascending doses of VTX-801, a gene therapy, administered intravenously (IV) to adult patients with Wilson’s Disease prior to and following background WD therapy withdrawal.

NCT04884815 — A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease

The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the effect of UX701 on copper regulation.

NCT07226622 — Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial

The aim of this study is to inform and improve future clinical trials in Wilson Disease (WD) by better understanding how patients with WD are living with and managing the disease, and by identifying key factors that shape their decisions to participate in clinical research.

Not Yet Recruiting

NCT06196931 — Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson’s Disease

In earlier studies, it was found that patients of Wilson disease with new diagnosed who only has neurological symptoms often had DWI hyper-intensity in brain MRI, which was more common in putamen and midbrain, indicating that the disease was in the acute stage. However, many patients had ADC hyper-intensity or hypo-intensity at the same time, and the two different signals represented different …

NCT06663878 — An Exploratory Study to Evaluate the Tolerability and Safety of MWAV201 in Subjects With Wilson Disease

The primary objective of this study is to evaluate the tolerability and safety of MWAV201 in patients with Wilson disease.

NCT06698991 — Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children

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. …

NCT07173933 — Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson’s Disease (WD)

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:

Is 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?

Par…

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

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 c…

NCT07075393 — Description of Renal Involvement in Wilson’s Disease

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.

Indirect renal complications are the most common, such as hepatorenal and cardiorenal syndromes, as well as severe complications lik…

NCT07476417 — Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.

Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung’s disease (HSCR) and multiple congenital malformations.

Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to dat…

NCT07641140 — Phase I/II Clinical Study to Evaluate the Safety, Tolerability and Efficacy of LY-M003 Injection in Adult Patients With Wilson’s Disease

This is a multicenter, open-label, single-arm, single-dose Phase I/II 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).

NCT07208565 — Endocrine Dysfunction in Pediatric Wilson’s Disease

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.

NCT07465718 — Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson’s Disease Patients.

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 rec…

Enrolling by Invitation

NCT07159581 — Gene Therapy for Wilson Disease Evaluated by 64Cu PET/CT

The primary objective of this study is to investigate the effect of gene therapy (UX704) on copper distribution and excretion in Wilson disease patients. The effect is investigated using 64Cu positron emission tomography scans combined with a CT scan.

Completed Trials

NCT00212355 — Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson’s Disease in Japan.

The purpose of this long-term study is to determine whether Zinc Acetate is effective and safe in the treatment of Wilson’s disease among Japanese.

NCT02552628 — WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)

Dystonia in Wilson’s disease represent a major issue. The persistence of disabling motor symptoms despite medical treatments justifies conducting a study on deep brain stimulation (DBS) in Wilson’s disease (WD). For bradykinetic patients, subthalamic nucleus (STN) could be considered as a better target than the globus pallidus (GPi). For patients with hyperkinetic dystonia, the internal globus …

NCT06762509 — The Clinical Study of Botulinum Toxin Type A Injection in the Treatment of Wilson Disease

In order to expand the treatment of Wilson disease and improve the quality of life of patients with Wilson’s disease, the clinical effect of botulinum toxin type A injection on Wilson’s disease was discussed.

NCT03539952 — Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson’s Disease

This is a multicenter, randomized, open-label study with an active standard-of-care comparator (penicillamine)

NCT04573309 — Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840

This exploratory study will investigate the effects of ALXN1840 on copper balance in participants with Wilson disease (WD).

NCT04422431 — Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840

The main objective of the study is to evaluate the change in liver copper (Cu) concentration following 48 weeks of treatment with ALXN1840 in adult participants with Wilson Disease (WD) who have been previously treated for at least 1 year with standard of care (that is, trientine, penicillamine, or zinc). In the Treatment Period, efficacy and safety of ALXN1840 will be assessed at Week 48.

NCT07462026 — Exchangeable and Relative Exchangeable Copper as an Alternative to 24-Hour Urinary Copper in Wilson’s Disease Monitoring

Serum exchangeable copper (EC) and relative exchangeable copper (REC) are blood tests developed to improve the assessment of copper levels in patients with Wilson’s disease. EC measures the fraction of copper in the blood that is not bound to ceruloplasmin and reflects copper accumulation in the body. REC represents the proportion of this exchangeable copper relative to total serum copper. Prev…

NCT05687474 — Baby Detect : Genomic Newborn Screening

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.

Baby Detect Project is an innovative NBS program using a …

NCT04910581 — rTMS in Wilson Disease Dysarthria

Wilson disease is a hereditary hepatic and neurological disease associated with copper accumulation. Neurological symptoms are of extra-pyramidal, cerebellar and dystonic origin. Dysarthria is one of the debilitating symptoms of Wilson disease poorly responsive to pharmacological treatment. The most common form is a dystonic hyperkinetic Dysarthria.

Pathophysiology of dystonia is still not elu…

NCT05783687 — Real World Evidence Study in Subjects With Wilson’s Disease

This non-interventional Real-World Evidence (RWE) study aims to describe non-ceruloplasmin copper values obtained using a new NCC Speciation assay by taking a small (up to 10mLs) volume of additional blood from patients with Wilson’s Disease, around the time when routine blood sampling is expected to be scheduled by the treating physician. Data will be collected over an approximate 12-month per…

NCT06128954 — Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).

A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base, twice daily) in healthy male and female participants.

NCT07046507 — The Exploratory Handheld Optical Coherence Tomography Study in Wilson’s Disease

This is an exploratory study using anterior segment optical coherence tomography (OCT) devices to measure copper in the eye. The investigators hope to use this to diagnosis kayser flesicher rings, an important diagnostic criteria in Wilson’s disease.

NCT07010575 — Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride

Decentralized study to assess patient reported treatment satisfaction comparing their current standard-of-care Wilson’s Disease (WD) treatment with a new once-daily Trientine (TETA) 4HCl formulation.

Other (Terminated)

NCT03403205 — Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease

The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation Period. In addition, efficacy and safety will be evaluated during an optional 60-month Extension Period.

NCT05047523 — Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease

This study is being conducted to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics of ALXN1840 versus standard of care in pediatric participants with Wilson disease (WD).

Other (Unknown)

NCT05305872 — Gandouling in the Treatment of Wilson’s Disease

To evaluate the efficacy and safety of gandouling tablet in the treatment of clinical symptoms of Wilson’s diasease.

NCT06179394 — Evaluation of Cognitive Dysfunction and Psychiatric Comorbidities

Primary objective

• Collection of patients with wilson disease either presented with neurological or hepatic symptoms
• Assessment of psychiatric and cognitive disorders in both groups by using specific scales Secondary objective
• correlation of MRI brain findings with cognitive & psychiatric symptoms found in the patients ,if possible.

NCT05917327 — Performance and Safety of MEX-CD1 Low-volume Continuous Veno-venous Haemodialysis Medical Device for Copper-extraction in Patients With Wilson’s Disease

The goal of this clinical trial is to test the MEX-CD1 hemodialysis medical device in patients suffering from Wilson’s Disease. The main questions it aims to answer are:

• Does the device work as expected by removing the excess of free copper from the blood?
• Is the device safe when used according to the instructions for use?

Depending on the severity of their symptoms, patients will receive…

NCT05792319 — Clinical Profile and Out Come of Children With Wilson’s Disease

Clinical profile and out come of Children with Wilson’s disease :A single tertiary center study