National Prion Clinic


The National Prion Monitoring Cohort (NPMC)

The National Prion Monitoring Cohort (NPMC), funded by the University College London Hospitals NHS Foundation Trust Biomedical Research Centre, is a long-term study which involves regular follow-up clinical and psychological assessments to understand how prion diseases affect patients over time. Launched in 2008, the study collects data on all patients diagnosed with or at high risk of developing prion disease, regardless of whether or not they are receiving treatment. Recruitment to the study has been very successful in that almost all eligible patients help with the work. By mid-2015, there were around 800 participants, a remarkable achievement for a rare disease. Amongst many outputs, the NPMC has allowed the development of a new rating scale, the MRC Prion Disease Rating Scale, a new method for conducting clinical trials, has contributed to the development of the world’s first blood test for variant CJD, and led to some remarkable findings in iatrogenic prion disease.In the ongoing study, individuals may enrol in one of four groups: 1) symptomatic patients with confirmed prion disease, 2) healthy individuals with confirmed pre-clinical prion infection or disease, 3) healthy individuals without a confirmed diagnosis but at increased risk, and 4) healthy individuals without either prion disease or increased risk as controls.

When new drugs are tested, this usually involves “randomisation” where some patients receive the drug and others, selected at random, receive an inactive dummy drug or placebo. The two groups of patients are then compared over a period of time. This is the best way scientifically of seeing if a new drug offers overall benefit to patients. Understandably, with such awful diseases for which there is currently no effective treatment, many patients and families may wish to try the new drug straight away rather than be randomised and this was our experience in the PRION-1 trial. As prion diseases are quite rare, come in many forms, and can be very variable in how rapidly they progress, it can be difficult to tell if a particular drug has overall benefit.  For this reason, it is important to build up a detailed picture of the progression of the different forms of the diseases and to determine how useful various types of tests are to monitor patients. The aim is to build up a very detailed understanding of disease progression that can then be used to compare with patients receiving new drugs in the future.

Learning how to make the diagnosis much earlier is important now, but will be increasingly important when we do have effective treatments as we will want to treat patients at the earliest possible stage, ideally before irreversible damage has occurred to the brain.  Currently, many patients are diagnosed at quite a late stage when extensive damage has already occurred. Developing a blood, urine or other non-invasive test for sporadic CJD remains an important research goal and blood samples collected in this study will be made available anonymously to a National collection that will be used to help develop and validate such tests.

The study monitors changes in clinical disease progression, neuropsychological rating scales, MRI and other investigations during the natural history of the diseases or in response to therapeutic and other interventions. We are developing the most appropriate tests for use in clinical trials to measure whether experimental drugs have an effect and assess potential laboratory tests that may also help us understand if a drug is working.  In addition to getting ready for future trials of drugs we hope will slow down or stop prion diseases, we will also be studying drugs now that are used to treat some of the symptoms of the diseases and work out which are best.  For example, we aim to study which drugs may be best to treat sleep disturbance or distressing jerky movements that occur commonly in prion disease.  A better understanding of how the individual prion diseases progress will help provide better information to support patients, their carers and families. Data will be collected in a standardised and systematic manner, like in a clinical trial, but at a level and frequency appropriate to the different patients.

There are different levels of participation, the minimum level being one that simply allows the data collected as part of routine NHS clinical care to be recorded for research, together with a standardised basic neurological examination.  For those patients able and willing to participate more fully, additional clinical information based on detailed doctors examination and memory tests, brain scans, and recordings of brain waves will be obtained and the neurological examination will be digitally recorded.  A description of the expected rates of change through defined stages of human prion infection will be invaluable to support the testing of new drugs for prion disease in the future.Much work is ongoing internationally to develop treatments for prion disease and two major projects are underway at the MRC Prion Unit in London aimed at developing both antibodies and conventional drugs to treat prion disease.  The National Prion Monitoring Cohort aims to pave the way for efficient testing of these and any other future treatments.

Prion diseases are, thankfully, relatively rare, and so to obtain sufficient information to make these advances requires a high level of participation.  To facilitate this, participants unable or unwilling to visit the NHS National Prion Clinic (NPC) at the National Hospital for Neurology and Neurosurgery in London can be visited in their local hospital or at home as they wish by one of the NPC teams (consisting of a doctor and nurse) for assessment.

Click here to find information sheets about the study (Patient Information Sheets). If you would like to speak to someone about the study please call the NPC on Tel: 020 7679 5142.

For further information, please contact:

Cohort Manager
Mrs Sarah Mazdon
020 7679 5036