Cohort Research on Wilson's Disease (CROWD)

December 23, 2019 updated by: University College, London

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • Birmingham, United Kingdom
        • Recruiting
        • University Hospitals Birmingham NHS Foundation Trust
        • Contact:
          • David Nicholl
      • Birmingham, United Kingdom
        • Recruiting
        • Birmingham Women's and Children's NHS Foundation Trust
      • Cambridge, United Kingdom
        • Recruiting
        • Cambridge University Hospitals NHS Foundation Trust
        • Contact:
          • William Griffiths
      • Cardiff, United Kingdom
        • Recruiting
        • Cardiff and Vale University Health Board
        • Contact:
          • Kathryn Peall
      • London, United Kingdom
        • Recruiting
        • King's College Hospital NHS Foundation Trust
        • Contact:
          • Adrian Bomford
      • London, United Kingdom
        • Recruiting
        • Royal Free London NHS Foundation Trust
        • Contact:
          • Emmanouil Tsochatzis
      • London, United Kingdom
        • Recruiting
        • National Hospital For Neurology and Neurosurgery
        • Contact:
          • Thomas Warner
      • Manchester, United Kingdom
        • Recruiting
        • Manchester University NHS Foundation Trust
        • Contact:
          • Harpreet Dhaliwal
      • Newcastle, United Kingdom
        • Recruiting
        • Newcastle upon Tyne Hospitals NHS Foundation Trust
      • Salford, United Kingdom
        • Recruiting
        • Salford Royal NHS Foundation Trust
        • Contact:
          • John Ealing
      • Sheffield, United Kingdom
        • Recruiting
        • Sheffield Teaching Hospitals NHS Foundation Trust
        • Contact:
          • Oliver Bandmann

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Secondary care

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Part 1
Genetic determinants (n=500)
Genetic: Next generation sequencing
Saliva samples
Part 2
Biomarker discovery (n=40)
Diagnostic test: Imaging and fluid biomarkers
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Questionnaire responses will be collected over two years.
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)
This assessment will be performed at two research visits 12-18 months apart.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Investigators

  • Principal Investigator: Thomas Warner, UCL Queen Square Institute of Neurology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 6, 2018

Primary Completion (Anticipated)

December 6, 2021

Study Completion (Anticipated)

December 6, 2021

Study Registration Dates

First Submitted

December 18, 2019

First Submitted That Met QC Criteria

December 23, 2019

First Posted (Actual)

December 26, 2019

Study Record Updates

Last Update Posted (Actual)

December 26, 2019

Last Update Submitted That Met QC Criteria

December 23, 2019

Last Verified

December 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 18/0200

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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