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News

Valproate and childbearing potential: new regulations

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Events

ABN/SBNS Joint meeting 19-21 September 2018 - registration now open. Abstract deadline extended to 25 June

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Sam Shribman

Biomarker discovery for neurological Wilson’s disease in preparation for novel therapies 

Wilson's disease (WD) is an inherited movement disorder that causes abnormal copper accumulation in the brain and/or liver. Current treatment involves copper-binding medication to remove excess copper from the body and is required lifelong. Some patients respond well to this treatment but others deteriorate despite treatment or develop debilitating side effects. New treatment approaches aiming to fix the underlying gene defect are in the early stages of development however our inability to monitor disease activity in the brain will limit our ability to test these therapies in a clinical trial. An exact role for magnetic resonance imaging (MRI), cerebrospinal fluid tests or other measures of brain damage, commonly used in other neurological disorders, is unclear.

In this study we aim to identify new approaches to monitoring neurological involvement in WD in order to prepare for clinical trials of new treatments. We will perform clinical assessments in combination with novel MRI techniques, blood tests and urine tests in 30 WD patients with neurological disease and 10 WD patients with liver disease (and without neurological involvement). We will then repeat this for each patient after 12-18 months to assess for any improvement or deterioration. We will perform lumbar punctures to sample the cerebrospinal fluid in a subset of patients.

Through identifying which novel MRI techniques, blood tests and cerebrospinal fluid tests measure disease activity in the brain we aim to enable trials for novel WD therapies within ten years and refine current management within the next five years.

 

News

Valproate and childbearing potential: new regulations

Read More

Events

ABN/SBNS Joint meeting 19-21 September 2018 - registration now open. Abstract deadline extended to 25 June

Read More