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The CROWD Study

  • Research type

    Research Study

  • Full title

    Cohort Research On Wilson's Disease: Genetic determinants and biomarker discovery for neurological involvement

  • IRAS ID

    235174

  • Contact name

    Thomas T Warner

  • Contact email

    t.warner@ucl.ac.uk

  • Sponsor organisation

    University College London

  • Clinicaltrials.gov Identifier

    Z6364106/2018/07/121, UCL Data Protection Registration

  • Duration of Study in the UK

    3 years, 0 months, 0 days

  • Research 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 our main aim is to identify genetic factors that determine whether someone with a diagnosis of WD will develop neurological involvement or not. We will invite 500 adults with WD across the UK to take part. They 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 our 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 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. We 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.

  • REC name

    North East - Newcastle & North Tyneside 2 Research Ethics Committee

  • REC reference

    18/NE/0279

  • Date of REC Opinion

    5 Oct 2018

  • REC opinion

    Further Information Favourable Opinion