P18 What are patients saying? Results from the WDSG-UK (Wilson’s disease support group) survey

<h3>Introduction</h3> Wilson’s disease (WD) is a rare disease requiring lifelong therapy. Challenges with long term treatment are well recognised with a risk of increased morbidity, mortality, and liver transplantation in those poorly adherent to therapy. We designed an online survey for WD patients to better understand their needs and inform clinicians of patient concerns. <h3>Methods</h3> The UK Wilson’s Disease Support Group (WDSG-UK) partnered with Orphalan to develop an anonymised patient questionnaire, hosted via the WDSG-UK website and Facebook page. The domains, covered over 35 questions, included demographics, presentation, diagnosis, current and past treatments, monitoring, adherence and living with WD. <h3>Results</h3> Between November 2023 and April 2024, 66 subjects registered; 18 were disqualified due to incomplete information and 48 subject responses were thus analysed. Participants were predominantly female (54%) and white (90%) with 38 (79%) completing all questions. Median (range) age was 43 years (7–70) with time since diagnosis 17 years (2–52). Parental response occurred in 3/3 patients &lt;13 years. Themes from the survey identified a desire for more local laboratory testing, improvement in time to diagnosis and more monitoring of drug tolerability. Data on current and past medication and reasons for changing were provided by 47/48 (98%), of whom 25/47 (53%) were currently on D-penicillamine (DPA). 19/47 (40%) of patients were on trientine (13 on trientine-2HCl, 6 on trientine-4HCl). Only 3 patients were on zinc (1 in combination with trientine-4HCl). 26% of subjects experienced ongoing adverse reactions and 34% reported lack of regular monitoring for side-effects. Inconveniences to therapy were reported by 35/47 (74%) including pill size, taste, losing medication, breaking bottle, remembering to take medication and, most commonly, food restrictions (26/47 = 55%). Frequency of dosing, timing with food, taste, adverse reactions, and difficulty swallowing medications were recorded as challenges to adherence, with 22% of respondents admitting to missing their medication at least once a week. 11/38 (29%) found investigations for disease monitoring inconvenient. <h3>Discussion</h3> This first comprehensive online survey of UK WD patients provides a snapshot of the challenges and adherence issues faced. Concerns identified include patient reported inconveniences to therapy, monitoring and identification of ongoing adverse reactions. All have the potential to impact adherence and further real world data are needed to confirm findings of this survey and to investigate interventions to improve health related quality of life of patients with WD. The survey reinforces the need for education and support for patients with Wilson’s disease.