Background REGISTRY is a multicentre observational study enabling the collection of a large amount of data on various aspects of Huntington's disease. It provides the opportunity to further our understanding of the natural history of the disease and the factors that might influence its onset and manifestation. Family history data are collected as part of the REGISTRY study and is important in order to ascertain how the natural history of the disease changes from generation to generation. It is also valuable in the genetic analysis of the disease as it can be used to determine heredity of phenotypic traits and to assist in determining potential genetic modifiers of the disease.
Aims The aim of this project was to survey the family history data collected as part of the REGISTRY study to date.
Methods/techniques Access to the complete family history dataset was provided by EHDN. The data were sorted according to site and the number of participants at each site with family history data were logged. To analyse the quantity and quality of the data collected, UK sites with more than 10 datasets were included and any with less were excluded. The top 10 European sites (non-UK) were also included in the analysis. Data were analysed in terms of the number of participants with proband-only collected, the number of errors noted and the number of participants who had other relatives in their family tree who were also on REGISTRY.
Results/outcome 119/129 (92%) of sites have at least one family history dataset entered onto REGISTRY. The sites with the most family history data collected were large centres in Germany, Spain, UK, France and Poland. Reasons for the varying degrees of data collected included the number of participants at the site, having a nominated individual to collect this data, time constraints on patients and staff during clinic visits and the priority of other studies at this time.
Conclusions Family history data collection is an important part of the REGISTRY study. Good progress has been made with this data collection so far, however this varies across sites. It is most important to include information on the proband, parents and grandparents as a minimum where possible. Good quality data will enable robust genetic modifier studies in the future, enhancing our understanding of HD pathogenesis.
- Huntington's disease
- family history
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