A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson...
Wilson DiseaseThe assumption is that in some of the carriers, the increase in enzymes reflects tissue damage due to excess copper. The reduction of the amount of copper absorbed will decrease excess copper in the liver, which will result in a decrease in the level of liver enzymes. Zinc causes the induction of metalothionines in the intestine, which in turn prevents absorption of copper from the digestive system. Zinc administration in Wilson's patients causes the depletion of copper deposits and constitutes one of the cornerstones in the treatment of this disease.
sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis
Wilsons DiseaseThe aim is to investigate macrophage activation markers and correlations to liver fibrosis in patients with Wilsons Disease. Researchers wish to investigate associations to neurologic and metabolic liver function. Researchers will assess this by comparing blood samples with fibrosis and liver function analyses. This study provides new insight into macrophages and their involvement in Wilsons Disease.
A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease...
Trientine Treatment for Wilson's DiseaseThis is a retrospective study to assess the clinical efficacy and safety of trientine in Wilson's disease patients
Pharmacokinetic Study of Oral ALXN1840 in Japanese and Non-Japanese Adult Healthy Participants
Wilson DiseaseThe main purpose of the study is to confirm how long ALXN1840 stays in the body of Japanese and non-Japanese healthy participants (that is, pharmacokinetic [PK] profile).
Establishment of Human Cellular Disease Models for Wilson Disease
Wilson DiseaseEstablishment of human cellular disease models for Wilson disease for an individualized therapy develop-ment having the capacity to address both hepatic and neurologic forms of the disease
Study of Retinal Vascular Parameters in Patients With Wilson's Disease
Wilson DiseaseThe rare disease reference center " Wilson disease and other rare copper-related diseases" of the Rothschild Foundation follows a large number of patients with Wilson's with varying degrees of impairment and located at different times of their care. Many people with Wilson's disease have a characteristic greenish-brown ring, known as Kayser-Fleischer, appearing at the periphery of the cornea due to a deposit of copper at the Descemet membrane. As a general rule, if the patient is compliant with his treatment, the ring usually disappears within a few years, although it may persist in some patients. However, apart from the stage of diagnosis, and the evolution of the ring, ophthalmological examinations are little used for the follow-up of these patients. The objective of this study is to describe the retinal parameters, in particular vascular with two new retinal imaging technologies (OCT-A :Optical Coherence Tomography-Angiography , Adaptive optics) in patients with Wilson's disease and to correlate them with the parameters of the usual follow-up of these patients (hepatic assessment, exchangeable plasma copper, neurological scores, compliance, etc.).
Impact of the Lockdown Due to the COVID Pandemic in French Wilson's Disease Patients
Wilson's Disease and COVID-19Wilson's disease is a rare genetic disorder that causes copper to build up in the body. This overload is initially localized in the liver and the brain, but can spread throughout the body and cause systemic damage if copper chelation or zinc salt therapy is not implemented quickly. Treatment should be taken daily and continued all the lifelong. Patients usually have a follow-up (clinical examination, ultrasound of the liver, blood and urine samples) every six months in the maintenance phase of the disease and more frequently in the event of destabilization of the disease which requires adaptation of the doses of treatment or when initiating treatment. Some patients also benefit from regular psychological follow-up and patients with a disabling neurological form may have physiotherapy, and speech therapy. The Covid 19 pandemic has imposed the lockdown of the entire population, including patients with Wilson's disease. The non-urgent care of these patients was therefore suspended. Medical consultations and paramedical care (physiotherapy, speech therapy, psychologist, etc.) have been postponed. Only very urgent hospitalizations in the event of imbalance of their illness with life-threatening risk were maintained. Wilson's disease patients could in this situation be particularly anxious and present disturbances of their quality of life. The psychiatric consequences could not be limited to the current period but also concern long-term patients, in particular if there is a worsening of the disease. The consequences of inactivity and the end of specific treatments (physiotherapy and speech therapy) could also be sources of aggravation. The behavioral and cognitive characteristics of the disease and the major difficulties in adherence to treatment already observed in this chronic disease, may suggest a repercussion of the pandemic in this population. The consequences of the COVID pandemic in these fragile patients with a rare disease must be assessed. It will be important to look at the consequences of the lockdown on the adherence to treatment and on the course of the disease.
Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease...
Wilson DiseaseThe primary objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future clinical studies.
Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients...
Wilson DiseaseGeneralized EpilepsyGeneralized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the future.
The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment...
Wilson DiseaseThis was a 24-month study to assess copper parameters in participants with Wilson disease (WD) treated with standard of care (SoC) medications. After providing informed consent, participants meeting all inclusion and no exclusion criteria were enrolled into the study as outpatients. The participants' routine clinic visits were scheduled according to the standard clinical practice at the study center and at the discretion of the treating physician at approximate 6-month intervals. At the time of enrollment, participants were receiving SoC medications for the treatment of WD, which could include penicillamine, trientine, zinc, or a combination of a copper chelator and zinc. If treatment was interrupted or stopped during the course of the study, participants continued in the study and biological samples and clinical data were continued to be collected for the full 24-month study period. Dosing with SoC agents was individualized and managed by the treating physician at the study center according to standard clinical practice at the site.