Wilson's DiseaseCROWDNCT04212195
Cohort Research on Wilson's Disease
An observational study of Wilson's Disease, run by University College, London at 11 sites in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Wilson's Disease
- What is being tested?
- Next generation sequencing and Imaging and fluid biomarkers
- How many people
- 500 participants
- Where
- 11 sitesUnited Kingdom
- Study dates
- 6 Dec 2018to 6 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Secondary care
Who may be able to join
- Diagnosed with Wilson's disease
- Age 16 years or over
- Living in the UK
Who cannot join
- Participant has another medical or psychiatric illness that would interfere in completing assessments
- Participant is pregnant
Trial locations and contacts
11 sites in 1 country.
11 sites in 1 country
United Kingdom11 sites, 11 recruiting
- Recruiting
Birmingham Women's and Children's NHS Foundation Trust
Birmingham
- Recruiting
University Hospitals Birmingham NHS Foundation Trust
Birmingham
David Nicholl
- Recruiting
Cambridge University Hospitals NHS Foundation Trust
Cambridge
William Griffiths
- Recruiting
Cardiff and Vale University Health Board
Cardiff
Kathryn Peall
- Recruiting
King's College Hospital NHS Foundation Trust
London
Adrian Bomford
- Recruiting
National Hospital for Neurology and Neurosurgery
London
Thomas Warner
- Recruiting
Royal Free London NHS Foundation Trust
London
Emmanouil Tsochatzis
- Recruiting
Manchester University NHS Foundation Trust
Manchester
Harpreet Dhaliwal
- Recruiting
Newcastle upon Tyne Hospitals NHS Foundation Trust
Newcastle
Steve Masson
- Recruiting
Salford Royal NHS Foundation Trust
Salford
John Ealing
- Recruiting
Sheffield Teaching Hospitals NHS Foundation Trust
Sheffield
Oliver Bandmann
About this study
Official title: Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement
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.
- Conditions
- Wilson's Disease
- Being tested
- Next generation sequencing, Imaging and fluid biomarkers
- Keywords
- Genetic modifiers, Biomarkers
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Next generation sequencingGenetic
Saliva samples
Imaging and fluid biomarkersDiagnostic test
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling
| Study group | Role | What they receive |
|---|---|---|
| Part 1 | Genetic determinants (n=500) Receives: Genetic: Next generation sequencing | |
| Part 2 | Biomarker discovery (n=40) Receives: Diagnostic Test: Imaging and fluid biomarkers |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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)
Measured: This assessment will be performed at two research visits 12-18 months apart.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Dec 2019
- Study start6 Dec 2018
- Primary completion6 Dec 2021 (estimated)
- Study completion6 Dec 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson's DiseaseStudies of the same condition, open and under way.
- More trials run by University College, LondonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas Warner, Principal investigator, UCL Queen Square Institute of Neurology
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04212195
- Sponsor's protocol ID
- 18/0200
- Acronym
- CROWD
- Status last verified
- Dec 2019
- First submitted
- 18 Dec 2019
- Last updated
- 26 Dec 2019
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Dec 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement
- ClinicalTrials.gov ID
- NCT04212195
- Acronym / sponsor ID
- CROWD / 18/0200
- Conditions
- Wilson's Disease
- Keywords
- Genetic modifiers, Biomarkers
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Study start
- 6 Dec 2018 (actual)
- Primary completion
- 6 Dec 2021 (estimated)
- Study completion
- 6 Dec 2021 (estimated)
- First posted
- 26 Dec 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Part 1 | – | Genetic: Next generation sequencingGenetic determinants (n=500) |
| Part 2 | – | Diagnostic Test: Imaging and fluid biomarkersBiomarker discovery (n=40) |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Secondary care
Key inclusion criteria (3 listed)
- Diagnosed with Wilson's disease
- Age 16 years or over
- Living in the UK
Key exclusion criteria (2 listed)
- Participant has another medical or psychiatric illness that would interfere in completing assessments
- Participant is pregnant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Next generation sequencingSaliva samples | Genetic | Part 1 |
| Imaging and fluid biomarkersMagnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling | Diagnostic test | Part 2 |
Primary outcome
Clinical phenotype
Time frame: 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)
Time frame: 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)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Dec 2019.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas Warner principal investigator
UCL Queen Square Institute of Neurology
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Wilson's Disease, run by University College, London at 11 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 26 Dec 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Samuel Shribman (02076794025, s.shribman@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical phenotype (time frame: Questionnaire responses will be collected over two years.). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Dec 2019.