Active clinical trials for "Hepatolenticular Degeneration"

Hypothesis: The investigators postulate that patients with Wilson disease who are asymptomatic or who have been effectively treated for their symptoms and are in a maintenance phase therapy can be safely and effectively treated with a single daily dosage of the chelating agent trientine. Specific Aims: To demonstrate that a single daily treatment with trientine is as effective or better than a patient's current maintenance therapy. This will be accomplished by performance of a case control prospective study of patients on their prior therapy, and during a period of treatment with a single weight based dose regimen of trientine. The primary endpoint for this study is the demonstration of equivalence to a patient's prior therapy. Secondary endpoints include: 1) demonstration of stability or improvement in parameters of copper metabolism; 2) improvement in adherence to therapy; 3) no progression of liver disease (defined by changes in synthetic function, albumin and INR, and fibrosis by Fibrotest).

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 pallidus (GPi) will be chosen as the target of DBS. The investigators hypothesize that STN DBS will improve Wilson's disease patients, who, despite copper chelators drugs, are still impaired by severe dystonia and akinesia (more or less associated with other movement disorders). The investigators primary objective is to demonstrate the efficacy of STN/GPi DBS on dystonia associated with Wilson's disease. Secondary objectives: To evaluate the impact of STN/GPi DBS on other movements disorders (tremor, Parkinsonism, chorea) observed in Wilson's disease. To describe cognitive status of patients and to evaluate the consequences of STN/GPi DBS on cognition and behavioral aspects of the disease. To evaluate the consequences of the stimulation on speech and swallowing. To evaluate the social impact of STN/GPi DBS in Wilson's disease. To evaluate the safety of STN/GPi DBS in the specific context of Wilson's disease.

The main purpose of the study was to evaluate the efficacy of ALXN1840 (formerly WTX101) for 24 weeks on non-ceruloplasmin-bound copper (NCC) concentrations adjusted for molybdenum plasma concentration in participants newly diagnosed with Wilson Disease (WD) who were aged 18 and older and who had NCC concentrations within or above the reference range at the time of enrollment in the study. The study consisted of a 24-week Treatment Period, followed by a planned 36-month Extension Period.

Wilson's disease is an autosomal recessive genetically inherited disorder of copper metabolism, causing neurological, psychiatric and liver disease. The ATP7B gene on the 13th chromosome is responsible for the disease. Liver has a critical role on copper metabolism. It is the main site of copper accumulation and bile secretion is the only physiologic way of copper elimination. Due to defective production of ceruloplasmin which carries copper, wide amount of free copper precipitates throughout the body but particularly in the liver, eyes and brain. Patients are bound to lifelong chelating agents such as penicillamine, trientine and tetramine dihydrochloride. Unfortunately, these medications may cause severe side-effects such as hypersensitivity reactions, bone marrow suppression, auto-immune disease and sideroblastic anemia. Medical treatment of liver cirrhosis, the last stage of the illness that leads to morbidity and mortality in the Wilson Disease, is difficult. Liver transplantation is still the most effective treatment for the patients with liver cirrhosis in Wilson Disease. However, serious problems are accompanied with liver transplantation. Lack of liver donors, complications during and after the surgery, graft rejection and high costs are the main problems. There are cells in the human body that are capable to renew themselves and differentiate to a diverse range of specialized cell types. These are called "stem cells". Stem cells can be differentiated to specialized cells in appropriate medias in the laboratory. Recently, the differentiation potential of mesenchymal stem cells into hepatocytes is proved by demonstrating hepatocytes containing Y chromosome in the female who has had bone marrow transplantation from male donors. In many laboratory studies, it is observed that human bone marrow derived mesenchymal stem cells, transplanted to animals with induced liver damage, differentiate into the albumin producing hepatocytes without fusion. By these studies, it is understood that mesenchymal stem cells are more potent than other bone marrow elements in context of differentiation to hepatocytes. Even though the number of studies on human for the same purpose is few, findings are supporting those of animal experiments. Mesenchymal stem cells are non-immunogenic. Safety and feasibility of allogeneic transplantations between individuals without need of immunosuppressive drug regimen are proven. Proofs of correcting metabolic defects by this way are also presented in some publications. For the reasons mentioned above, allogeneic mesenchymal stem cell transplantation is a promising treatment modality especially for the hereditary metabolic diseases. By this way, non-immunogeneic mesenchymal stem cells which have healthy genetic structure, can manufacture the required enzyme, will be repopulated in the damaged tissue and contribute to the clinical improvement. In this study, mesenchymal stem cells will be derived from healthy volunteer donor's bone marrow and be expanded in-vitro, and then 1 million cells per kg will be infused to patients with liver cirrhosis related to Wilson disease, 50 million cells via hepatic artery and the remaining cells via peripheral vein. It is aimed to enable liver regeneration, decrease fibrosis rate, improve patient's health conditions, increase ceruloplasmin synthesis, ameliorate disorder of copper metabolism, decrease the need for chelating agents, increase living standards of patients, and prolong waiting time for liver transplantation. Finally it is aimed to establish a new and regenerative treatment protocol alternative to liver transplantation. For observation of clinical and laboratory improvement, patients are planned to be monitored by histopathologic examination of liver biopsies before and at 6th month after the treatment, monthly biochemical and hematologic blood tests and periodic radiologic examinations. This is a hopeful, avant garde and sophisticated study which may constitute new horizons in context of cellular therapies.

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

OBJECTIVES: Evaluate the safety and efficacy of ammonium tetrathiomolybdate alone and compared with trientine therapy as initial treatment in patients with Wilson disease presenting neurologically.

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

A study to review Wilson disease patients who have previously been prescribed d- Penicillamine but were changed to trientine as treatment for their disease, and to follow them for a further 12 months.

The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease

This study is to investigate the clinical efficacy of artificial liver support system using combination of plasma exchange and continuous hemodiafiltration in treatment of Wilson's Disease - related liver failure. 30 patients will receive treatment of plasma exchange and continuous hemodiafiltration and internal medicine. 30 patients will receive treatment of internal medicine.