Real World Evidence Study in Subjects With Wilson's Disease
Wilson DiseaseThis 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 period.
Cardiac Involvement in Wilson's Disease
Wilson's DiseaseHeart 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.
Wilson France Register
Wilson DiseaseThis 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.
International Wilson's Disease Patient Registry (iWilson Registry)
Wilson's DiseaseLongitudinal, 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.
A Registered Cohort Study on Wilson's Disease
Wilson's DiseaseThe 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.
Clinical Features and Outcome in Patients With Osseomuscular Type of Wilson's Disease
Clinical Features and OutcomeThe investigators aimed to observe the clinical features and outcome in patients with osseomuscular type of Wilson's disease from a large cohort during long-term follow-up
Natural History of Wilson Disease
Wilson DiseaseThe 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.
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
Wilson DiseaseThe investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants...
Wilson DiseaseThe 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.
Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
Wilson DiseaseThis 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).