Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
500 participants
OBSERVATIONAL
2018-12-06
2021-12-06
Brief Summary
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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
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Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Part 1
Genetic determinants (n=500)
Next generation sequencing
Saliva samples
Part 2
Biomarker discovery (n=40)
Imaging and fluid biomarkers
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling
Interventions
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Next generation sequencing
Saliva samples
Imaging and fluid biomarkers
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling
Eligibility Criteria
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Inclusion Criteria
* Age 16 years or over
* Living in the UK
Exclusion Criteria
* Participant is pregnant
16 Years
ALL
No
Sponsors
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University College, London
OTHER
Responsible Party
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Principal Investigators
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Thomas Warner
Role: PRINCIPAL_INVESTIGATOR
UCL Queen Square Institute of Neurology
Locations
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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
National Hospital for Neurology and Neurosurgery
London, , United Kingdom
Royal Free London NHS Foundation Trust
London, , United Kingdom
Manchester University NHS Foundation Trust
Manchester, , United Kingdom
Newcastle upon Tyne Hospitals NHS Foundation Trust
Newcastle, , United Kingdom
Salford Royal NHS Foundation Trust
Salford, , United Kingdom
Sheffield Teaching Hospitals NHS Foundation Trust
Sheffield, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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David Nicholl
Role: primary
William Griffiths
Role: primary
Kathryn Peall
Role: primary
Adrian Bomford
Role: primary
Thomas Warner
Role: primary
Emmanouil Tsochatzis
Role: primary
Harpreet Dhaliwal
Role: primary
Steve Masson
Role: primary
John Ealing
Role: primary
Oliver Bandmann
Role: primary
Other Identifiers
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18/0200
Identifier Type: -
Identifier Source: org_study_id