Cohort Research on Wilson's Disease

  • STATUS
    Recruiting
  • End date
    Dec 6, 2021
  • participants needed
    500
  • sponsor
    University College, London
Updated on 23 January 2021
MRI
liver disease
liver transplant
genetic testing
copper
other neurological disorders
neurological disability

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.

Details
Condition LIVER DISEASE, Wilson's Disease, Liver Disorders
Treatment Next Generation Sequencing, Imaging and fluid biomarkers
Clinical Study IdentifierNCT04212195
SponsorUniversity College, London
Last Modified on23 January 2021

Eligibility

Yes No Not Sure

Inclusion Criteria

Diagnosed with Wilson's disease
Age 16 years or over
Living in the UK

Exclusion Criteria

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