Huntington's disease Research UK
Huntington's disease CSG
Chair: Professor Anne Rosser, Cardiff UniversityHuntington’s disease (HD) is a dominantly inherited condition in which there is progressive dysfunction and loss of cells in the straital nucleus of the basal ganglia. It is increasingly regarded as a good paradigm for neurodegeneration in the wider sense. Currently, management of HD is aimed at treating the manifest symptoms, including choreic and dystonic movements and psychiatric disturbance. However, many treatments are prescribed ‘offlabel’ and there is currently no evidence-based treatment strategy. As HD is a relatively uncommon condition, collaboration amongst centres expert in HD is required to undertake properly powered clinical studies. This need prompted the founding of the UK HD Network (UKHDN) in January 2003. The UKHDN is a network of clinicians and scientists, coordinated by the Cardiff Centre, which aims to facilitate understanding of HD, assess current treatments, and create a platform for new and emerging treatment trials.
Working with the European HD Network
The activities of the UKHDN have been enhanced by the emergence of the European HD Network (EHDN) toward the end of 2003, coordinated from Ulm, Germany. The EHDN is a network of national Networks from several countries around Europe and acts to facilitate and encourage European collaboration as well as hosting a database for patients interested in research. The heart of the EHDN is a web portal that allows data to be entered from any location in Europe (www.euro-hd.net). All relevant trial information is available for downloading. The core EHDN study, ‘Registry’, has MREC approval in the UK and data collection began in 2005. The objective of Registry is to collect prospective data on the phenotypical characteristics of Huntington's disease HD) gene carriers, in order to obtain natural history data, to expedite identification and recruitment of participants for clinical trials and to plan for future research studies. All Registry participants undergo standardised clinical assessments and are invited to donate biosamples (blood and urine) to the ‘Registry Biobank’. These biosamples will be used for studies aiming to identify genetic modifiers of HD and to establish and validate biological markers to track the course of HD. The latter will be crucial for adequate powering of treatment trials in asymptomatic gene carriers. A number of international Working Groups (WGs) have been set-up via the EHDN to work on specific research areas and the development of existing assessment tools that cover all aspects of HD, ranging from ‘Standards of Care’ and ‘Quality of Life’ to ‘Symptomatic Treatments’ and ‘Surgical Therapy’ (see appendix A for full list of WGs).
The UKHDN Steering Committee has similar and overlapping aims to the HD CSG and so a recent decision was taken to merge them into a single committee.
The HD CSG aims to:
Use the recently-established HD network in as a platform for research
Consolidate and extend the network of UK clinical centres
Facilitate studies paving the way for high quality clinical trials in HD
Support the first emerging treatment trials
Seek new funding for HD clinical research
List of Huntington's disease CSG Members 