Cohort Research on Wilson's Disease
Cohort Research on Wilson's Disease
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.
Inclusion Criteria (part 1 and part 2):

 -  Diagnosed with Wilson's disease

 -  Age 16 years or over

 -  Living in the UK

 Exclusion Criteria (part 2):

 -  Participant has another medical or psychiatric illness that would interfere in
 completing assessments

 -  Participant is pregnant