Abstract
Background: Wilson disease (WD) is a rare disorder of copper metabolism. Aims: Evaluate WD registries in researching areas of limited knowledge. In particular to study a) Treatment patterns and the role of zinc b) The prevalence and characteristics of mental health issues and quality of life (QOL) c) Acute liver injury in WD d) Mortality in WD in England.
Methods: The Yale initiated WD registry is characterized and compared to cohort studies globally. Patient’s neurology, mental health and liver disease are evaluated. QOL in WD, prevalence of mental health issues and impact of liver and neurological disease is reviewed. Retrospective and cross-sectional data analysis will form a feasibility study to test the registry design, data elements and assessment tools selected.
Results: 74 adult and 28 paediatric patients were enrolled from multiple sites over the first 3.5 years. Studies were conducted at various points of enrolment. Alternative WD databases were used to study other areas of limited knowledge in WD. We found that a) Treatment with alternative zinc salts can be effective with close monitoring b) Major Depression (MDD) is highly prevalent in WD and associated with more anxiety, neuroticism, perceived stress and a worse QOL. No association between liver or neurological disease and MDD was found. c) Mental health issues may affect WD patients QOL independent of the degree of liver or neurologic disease.
Conclusion: My thesis highlights the value of registries in evaluating WD treatments, clinical parameters and outcome measures. Initial data from our WD registry supports the feasibility of the overall registry design. The registry data is linked to a biobank of serum and DNA for future studies in a carefully characterized population. The registry will be a valuable resource for future research and the design may be a model for other WD and rare disease registries.