View clinical trials related to Wilson Disease.
Filter by: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 design screening strategies and improve diagnostic circuits.
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 panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.
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 the effectiveness of copper depletion in treated patients The main objective is to compare the state of dental health between: patients with Wilson disease in the hepatic form and patients with the neurological form, and a population of controls.
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 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.
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
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.