Aside from patients with Creutzfeldt–Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk individuals from families with inherited prion disease. With some of these large pedigrees a clinical relationship has been fostered for around two decades since mutations in the prion protein gene and their use in diagnosis and genetic counseling were first reported from 1989. Through collaboration with the UK Health Protection Agency referrals are received from individuals at risk of variant Creutzfeldt–Jakob disease through blood transfusion. In 2020 the clinic staff comprise consultant neurologists Professor John Collinge, Professor Simon Mead and Dr Peter Rudge, Clinical Research Fellows, Senior Clinical Psychologist, Lead Nurse, Clinical Nurse Specialists a Cohort Manager and administrator.
The objectives of the NPC
To provide inpatient and outpatient services for the comprehensive assessment of all suspected CJD and other prion disease. The service includes rapid clinical assessment and diagnosis including, neuroimaging, neuropsychology, neurophysiology, molecular genetics, cerebral and tonsil biopsy, CSF markers and the co-ordination of subsequent management of patients and their families, in liaison with local healthcare professionals.
Information, advice, support and counselling for patients and their families, both during investigation, on diagnosis, and long term follow up, working closely with and provide information and support for professionals working with registered patients in their local area.
Advice and support from a clinical nurse specialist, counsellor and consultant staff for patients, families, carers and health professionals including a telephone help-line and email advice. Close liaison with the principal UK patient support groups is critical: particularly the CJD Support Network and the Cure CJD Campaign.
Provide an internationally recognized centre of expertise for prion disease diagnosis and staff training. Also helping to develop national standards for patient management and infection control in hospitals, and provide clinical and scientific input to the activities of several government appointed national committees.
To provide the infrastructure to enable UK clinical trials in prion disease and to facilitate the clinical and other research of the MRC Prion Unit and its collaborators. In 2007 the NPC completed the first large national clinical trial in prion disease, the PRION-1 trial of the experimental prion therapeutic quinacrine. Currently the NPC is recruiting into the National Prion Monitoring Cohort study which aims to help optimise future clinical trials.
