Cohort Research on Wilson's Disease
CROWD
Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement
1 other identifier
observational
500
1 country
11
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 2018
Typical duration for all trials
11 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
December 6, 2018
CompletedFirst Submitted
Initial submission to the registry
December 18, 2019
CompletedFirst Posted
Study publicly available on registry
December 26, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 6, 2021
CompletedStudy Completion
Last participant's last visit for all outcomes
December 6, 2021
CompletedDecember 26, 2019
December 1, 2019
3 years
December 18, 2019
December 23, 2019
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Clinical phenotype
Responses to online questionnaires for the first part of the study will be used to the determine the presence or absence of neurological symptoms.
Questionnaire responses will be collected over two years.
Unified Wilson's Disease Rating Scale (UWDRS)
Participants in the second part of the study will be assessed at research visits using this scale (0-320)
This assessment will be performed at two research visits 12-18 months apart.
Study Arms (2)
Part 1
Genetic determinants (n=500)
Part 2
Biomarker discovery (n=40)
Interventions
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling
Eligibility Criteria
Secondary care
You may qualify if:
- Diagnosed with Wilson's disease
- Age 16 years or over
- Living in the UK
You may not qualify if:
- Participant has another medical or psychiatric illness that would interfere in completing assessments
- Participant is pregnant
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (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
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
Biospecimen
Saliva (part 1). Urine, blood and, in a subset, cerebrospinal fluid (part 2).
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Thomas Warner
UCL Queen Square Institute of Neurology
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
December 18, 2019
First Posted
December 26, 2019
Study Start
December 6, 2018
Primary Completion
December 6, 2021
Study Completion
December 6, 2021
Last Updated
December 26, 2019
Record last verified: 2019-12