A single UK research programme is systematically tracking everyone in the country known to have or be at risk of prion disease—rare, fatal brain disorders such as variant Creutzfeldt-Jakob disease—from symptom-free carriers to terminally ill patients. Prion diseases are difficult to study because they are so rare and progress rapidly. Without a coordinated, long-term effort, researchers cannot gather enough standardised data to understand how the diseases unfold or to test potential treatments. This cohort fills that gap by collecting clinical, neurological, and imaging data from three groups: symptomatic patients, asymptomatic individuals with confirmed infection or genetic mutations, and those at high risk due to past exposure. The structure allows people to move between groups if their status changes. If the programme succeeds, it will create a permanent infrastructure for future clinical trials. Researchers can nest new treatment studies within the cohort, compare results across different therapies using standardised measures, and design better trials based on real-world disease progression. This could accelerate the search for effective treatments for a group of diseases that currently have no cure.
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BackgroundThe National Prion Monitoring Cohort comprises three strata: 1) symptomatic patients with confirmed prion disease (Appendix 1), 2) asymptomatic individuals with confirmed pre-clinical prion infection or disease (confirmed genetic mutation or positive PrP immunocytochemistry or Western blot on tissue biopsy but no symptoms at present) and 3) asymptomatic individuals without a confirmed diagnosis but at high risk due to known exposure (either through iatrogenic exposures , or close kinship with a person with confirmed inherited prion disease (IPD)). The first stratum includes those patients already enrolled in any of the threeparts of the PRION-1 trial (randomised controlled trial of immediate versus deferredquinacrine, open-label study of quinacrine, or study of no quinacrine treatment), patients receiving pentosan polysulphate, terminally ill patients not eligible for PRION-1 and patients not wishing to join PRION-1. The second stratum would include those individuals without symptoms at present, but who are highly likely to develop symptoms at some stage in the future. The third stratum would include individuals at high risk of being diagnosed with human prion disease in the future: however, some of these individuals may subsequently be found not to be at risk for human prion disease, for example, if they subsequently have a negative genetic test and as more is learnt about iatrogenic exposure risks. Individuals may move between strata if they develop symptoms, or prion disease diagnosis is confirmed.Data will be collected in a standardised and systematic manner but at an intensity and frequency appropriate to the different patient populations studied. This will allow flexibility according to disease type and stratum. In future a number of therapeutic studies with individual protocols and separate specific ethical approval may be nested within the National Prion Monitoring Cohort, which will inform study design and allow comparison of standardised data across different studies. At a minimum, data collected as part of routine clinical management will be recorded together with a standardised basic neurological examination. As an optimum, additional clinical information based on neurological and neuropsychological assessments will be obtained and neurological examination will be digitally recorded. Additional non-invasive procedures such as MRI and EEG, and further more specialised neurological assessments and blood tests will be performed based on additional consent for each procedure. Results from separate individual research projects and studies involving genetic analysis or invasive tests (additional to routine clinical management), such as tissue biopsy or lumbar puncture, may be collected but these procedures will not be carried out as part of the National Prion Monitoring Cohort.AimsNEW PROJECT - this project was commissioned through the online commissioning process. All available project details have been transferred to respective fields in this database.Plan of InvestigationNEW PROJECT - this project was commissioned through the online commissioning process. All available project details have been transferred to respective fields in this database.Potential ImpactNEW PROJECT - this project was commissioned through the online commissioning process. All available project details have been transferred to respective fields in this database.
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