Cohort Research on Wilson's Disease
- Conditions
- Wilson's Disease
- Interventions
- Diagnostic Test: Imaging and fluid biomarkersGenetic: Next generation sequencing
- Registration Number
- NCT04212195
- Lead Sponsor
- University College, London
- Brief Summary
Wilson's disease (WD) is an inherited disorder that causes abnormal copper accumulation in the brain and/or liver. Some people develop neurological or psychiatric symptoms whereas other develop liver disease. The reasons for this are unclear but genetic factors are likely to contribute. Current treatment, using copper-binding medications, is required lifelong. Some respond well but others suffer debilitating side-effects or deteriorate despite treatment, leading to disability or the need for liver transplantation.
In the first part of this study the main aim is to identify genetic factors that determine whether someone with a diagnosis of WD will develop neurological involvement or not. The investigators will invite 500 adults with WD across the UK to take part. Participants will be asked to complete an online questionnaire and provide a saliva sample for genetic testing using a collection kit sent via post. Identifying these genetic factors would significantly advance our understanding of the disease and may provide new targets for drug discovery or help guide more personalised approaches to treatment.
In the second part of this study the main aim is to develop new ways to monitor the effect of WD on the brain using tests. Copper levels in blood and urine, currently used to monitor the disease, are unreliable and do not necessarily reflect ongoing brain damage. The role of MRI scans, cerebrospinal fluid tests or other measures of brain damage, commonly used in other neurological disorders, is unclear. The investigators will therefore follow a group of 40 patients using clinical assessments and a combination of neurological tests, including novel imaging and laboratory techniques, over 24 months. Developing new approaches to monitoring the effect of WD on the brain will enable better prevention of neurological disability and be essential for demonstrating the effectiveness of new treatments, such as gene therapy, in clinical trials in the future.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 500
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Part 2 Imaging and fluid biomarkers Biomarker discovery (n=40) Part 1 Next generation sequencing Genetic determinants (n=500)
- Primary Outcome Measures
Name Time Method Clinical phenotype Questionnaire responses will be collected over two years. Responses to online questionnaires for the first part of the study will be used to the determine the presence or absence of neurological symptoms.
Unified Wilson's Disease Rating Scale (UWDRS) This assessment will be performed at two research visits 12-18 months apart. Participants in the second part of the study will be assessed at research visits using this scale (0-320)
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (11)
Birmingham Women's and Children's NHS Foundation Trust
🇬🇧Birmingham, United Kingdom
University Hospitals Birmingham NHS Foundation Trust
🇬🇧Birmingham, United Kingdom
Cambridge University Hospitals NHS Foundation Trust
🇬🇧Cambridge, United Kingdom
Cardiff and Vale University Health Board
🇬🇧Cardiff, United Kingdom
King's College Hospital NHS Foundation Trust
🇬🇧London, United Kingdom
Manchester University NHS Foundation Trust
🇬🇧Manchester, United Kingdom
Salford Royal NHS Foundation Trust
🇬🇧Salford, United Kingdom
Newcastle upon Tyne Hospitals NHS Foundation Trust
🇬🇧Newcastle, United Kingdom
Sheffield Teaching Hospitals NHS Foundation Trust
🇬🇧Sheffield, United Kingdom
National Hospital for Neurology and Neurosurgery
🇬🇧London, United Kingdom
Royal Free London NHS Foundation Trust
🇬🇧London, United Kingdom