Cohort Research on Wilson’s Disease

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Brief Title

Cohort Research on Wilson's Disease

Official Title

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

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.
    



Study Type

Observational


Primary Outcome

Clinical phenotype


Condition

Wilson's Disease

Intervention

Next generation sequencing

Study Arms / Comparison Groups

 Part 1
Description:  Genetic determinants (n=500)

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

500

Start Date

December 6, 2018

Completion Date

December 6, 2021

Primary Completion Date

December 6, 2021

Eligibility Criteria

        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
      

Gender

All

Ages

16 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Thomas Warner, 02076794025, [email protected]

Location Countries

United Kingdom

Location Countries

United Kingdom

Administrative Informations


NCT ID

NCT04212195

Organization ID

18/0200


Responsible Party

Sponsor

Study Sponsor

University College, London


Study Sponsor

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


Verification Date

December 2019