Principal Investigator: Professor Thomas T Warner (email@example.com)
Clinical Research Fellow: Dr Sam Shribman (firstname.lastname@example.org)
Reta Lila Weston Institute
UCL Queen Square Institute of Neurology
1 Wakefield Street
Confirmed diagnosis of Wilson’s disease
Age 16 years or over
Lives in the UK
Wilson’s disease is a rare autosomal-recessive disorder of copper metabolism with an estimated
prevalence of 1 in 30,000. It causes abnormal copper accumulation in the liver and/or brain. Some people
develop neurological or psychiatric symptoms (around 60%) whereas others develop liver disease in
isolation. The reasons for this are unclear.
To identify genetic factors that determine neurological involvement in Wilson's disease
- To create a web-based study database that informs methodology for a UK registry
- To assess medication-taking behaviour and identify barriers to adherence in Wilson's disease
- To collate patient reported outcome measures in a cohort of Wilson's disease patients
Identifying genetic factors that determine neurological involvement would significantly advance our
understanding of the disease and may provide new targets for drug discovery or help guide more
personalised approaches to treatment.
We are not aware of any other ongoing studies that aim to address this research question.
This work forms the first part of a wider research programme on Wilson’s disease, the CROWD study. The second part of the study, which is funded by the ABN Clinical Research Training Fellowship, focusses on biomarker discovery for neurological involvement.
In this part of the study, we are inviting adults with Wilson’s disease to complete an online questionnaire and then provide a saliva sample for genetic research using a collection kit sent via post.
The study has been given HRA and REC approval and launched in December 2018. Participants are
already being recruited through neurology and hepatology outpatient clinics at 2 research sites and 9
participant identification centres where potential participants are being offered an invitation letter that
directs them to study website (www.thecrowdstudy.com). The homepage is based on the participant
information sheet and directs potential participants to the online questionnaire. The questionnaire asks participants for their contact details and then includes a range of questions about symptoms related to Wilson’s disease, family history, medication-taking behaviour and quality of life.
After completing the questionnaire, participants are being contacted by a member of the research team via telephone to confirm they have capacity to proceed. They are then sent a package containing a set of instructions, a paper consent form and saliva collection kit with stamped addressed envelopes. Clinical details are confirmed using medical records where necessary (and with participant permission).
DNA will be extracted from the saliva samples for performing a genome-wide association study and
subsequent studies using next generation sequencing technologies.
We are requesting that this study is included in the RaDAR portfolio to allow patient to ‘opt in’ by visiting the study website or contacting the investigators, having been provided with information about their study by their neurologist (as per BNSU Guidance 3.2). This approach to recruitment is included in the attached protocol and IRAS form that has received HRA and REC approval.
Neurologists will not be required to complete a case report form. They will be asked to inform patients that they can participate in research on Wilson’s disease by visiting the study website and offer the research team’s contact details (email and phone number). No patient identifiable data will be forwarded on to the research team prior to recruitment. We may contact specialists after the participant is enrolled in the study to request copies of medical records but would provide a copy of the signed consent form confirming the permission to access medical records in this scenario.