Cohort Research on Wilson's Disease

Wilson's Disease Clinical Trial

— CROWD  

Official title:

Cohort Research On Wilson's Disease: Genetic Determinants and Biomarker Discovery for Neurological Involvement

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04212195
• Other study ID #: 18/0200
• Status: Recruiting
• Start date: December 6, 2018
• Est. completion date: December 6, 2021

Study information

• Verified date: December 2019
• Source: University College, London
• Contact: Samuel Shribman
• Phone: 02076794025
• Email: s.shribman[@]ucl.ac.uk
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 6, 2021
• Est. primary completion date: December 6, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 16 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Wilson's Disease

Intervention

Genetic:
• Next generation sequencing
Saliva samples

Diagnostic Test:
• Imaging and fluid biomarkers
Magnetic resonance imaging of the brain and urine, blood and cerebrospinal fluid sampling

Locations

Country	Name	City	State
United Kingdom	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

Sponsors (1)

Lead Sponsor	Collaborator
University College, London

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.
Primary	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.