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MRC Prion Unit
From fundamental research to prevention and cure

Clinical research studies in the UK

The principal aims of the clinical research programme are to facilitate the translational agenda of the Unit - the development of early diagnostics and effective therapeutics for human prion infection. While the majority of the UK population will have been exposed to BSE prions, the number of clinical cases has thankfully been modest to date. However, the extent of clinically silent infection remains unclear and secondary transmission of vCJD is now a reality. These public health uncertainties will persist for many years and present a major ongoing annual cost to the NHS in risk reduction measures of uncertain necessity or efficacy. There is a clear imperative in the UK to follow through on research to provide effective solutions to existing problems and to anticipate any further BSE-related human disease waves, whether these are related to different genomes (see Human Genetics programme) or iatrogenic transmission: such research remains a strategic priority.

Proof of principle for effective therapeutics for prion disease has been achieved in animals, and early pathology and clinical features shown to be reversible. We consider human therapeutics based on effective targeting of PrP to now be achievable. Success in our aim that prion neurodegeneration becomes the first neurodegenerative disease to have a curative treatment would have an impact on patients, carers and the medical scientific community that would completely transcend issues about the relative rarity of prion disease. We anticipate much will be learned of wider relevance in dementia by understanding the capacity of the brain to recover or functionally adapt by curative intervention to clear prion infection: essentially abruptly halting an established neurodegenerative process.

Effective clinical testing of such therapeutics is challenging but much has been learned from the National Prion Monitoring Cohort, including the development of the MRC Prion Disease Rating Scale. The Cohort study provides the infrastructure for the development of effective disease staging, selection of outcome measures and design of future trials, in addition to facilitating the diagnostics, biomarker, neuroimaging and other translational research of the Unit. Patients at-risk because of their family history or exposure are recruited allowing clinical or molecular diagnostic insights into the earliest stages of disease when we hope to start therapies. We hope to develop optimised clinical trials with improved clinical endpoints, trial design, and biomarkers.

Although all these studies look forward to progress in our immunotherapy and small molecule therapeutics, we also do clinical studies to provide robust evidence for the use of symptomatic therapies available to clinicians now, and other ways to ameliorate some of the distressing symptomatology of prion diseases. These studies capitalise on the wide expertise at The National Hospital for Neurology and Neurosurgery, as well as other national and international collaborations. The clinical programme works closely the human genetics research at the Unit to identify novel causal and disease-modifying mutations, make new genotype-phenotype correlations and understand the impact of prion infection on the peripheral blood transcriptome.