National Prion Clinic (UK)

History

Prion diseases comprise Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and related disorders^[1]. A specialist prion disease clinic was established by Professor John Collinge at St Mary's Hospital, London, in 1997^[2]. This was designated the NHS National Prion Clinic (NPC) in March 2001 by the UK Department of Health^[3][4]. In August 2004, following the relocation of the Medical Research Council (MRC) Prion Unit from Imperial College to University College London (UCL)^[5], the NPC relocated to the National Hospital for Neurology and Neurosurgery at Queen Square^[6], part of the University College London Hospitals NHS Foundation Trust^[7]. The NPC is closely integrated with the MRC Prion Unit, a relationship of fundamental importance to the missions of both organisations^[5]. The NPC receives UK-wide and international referrals of all forms of suspected CJD or other prion diseases^[6]. It is internationally unique and has developed considerable experience in the clinical management of prion disease^[6].

In addition to providing a national NHS centre of expertise for the management of all forms of CJD and other prion diseases, the clinic was established to facilitate research in both diagnostics and therapeutics including the organisation of clinical trials^[8]. The Health Services Director at the NHS Executive wrote to all UK hospitals to inform them of the clinic, and encourage referral to it^[9]. The clinic liaises closely with the National CJD Surveillance Unit in Edinburgh, Scotland (NCJDSU) to ensure that both centres are aware of all UK prion disease patients^[10].

Referrals and staff

Aside from patients will Creutzfeldt-Jakob disease and other prion diseases, referrals are welcome of healthy but at-risk individuals from families with inherited prion disease^[2]. 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^[11]. Through collaboration with the UK Health Protection Agency referrals are received from individuals at risk of variant Creutzfeldt-Jakob disease through blood transfusion^[12].

In 2010 the clinic staff comprised consultant neurologists Professor John Collinge and Drs Simon Mead and Peter Rudge and consultant neuro-radiologist Harpreet Hyare. Permanent NHS staff include Michele Gorham, a consultant nurse; and a clinical counsellor; with part-time input from a senior clinical psychologist^[2].

The objectives of the NPC

• To provide inpatient and outpatient services for the comprehensive assessment of all suspected CJD and other prion disease (sporadic, acquired and inherited). The service includes rapid clinical assessment and diagnosis including, neuroimaging, neuropsychology, neurophysiology, molecular genetics, cerebral and tonsil biopsy (including biochemical analysis of prion strain type), 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^[13].

• 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.^[8] Currently (2010) the NPC is recruiting into the National Prion Monitoring Cohort study which aims to help optimise future clinical trials^[2].

References

1. ^ Prion diseases of humans and animals: their causes and molecular basis. Collinge J. Annu Rev Neurosci. 2001;24:519-50.
2. ^ ^{a b c d} www.nationalprionclinic.org
3. ^ NHS to open CJD clinic. http://news.bbc.co.uk/1/hi/health/1398210.stm
4. ^ CJD patients to receive specialist treatment at first dedicated clinic. http://www.independent.co.uk/life-style/health-and-families/health-news/cjd-patients-to-receive-specialist-treatment-at-first-dedicated-clinic-674871.html
5. ^ ^{a b} www.prion.ucl.ac.uk
6. ^ ^{a b c} http://www.uclh.nhs.uk/NR/rdonlyres/213992ED-FC59-4E21-B8D8-A3B3B97FFE5A/0/NHNNbrochurefinal.pdf
7. ^ http://www.uclh.nhs.uk/
8. ^ ^{a b} Collinge,J, Gorham M, Hudson F, Kennedy A, Keogh G, Pal S, Rossor M, Rudge P, Siddique D, Spyer M, Thomas D, Walker S, Webb T, Wroe S, and Darbyshire J. A partially randomised patient preference trial to assess the safety and activity of quinacrine in human prion disease: the PRION-1 trial. Lancet Neurology. 2009
9. ^ Chief Executive's Bulletin (2001). http://www.publications.doh.gov.uk/cebulletin22march.htm 2001
10. ^ http://www.dh.gov.uk/en/Publicationsandstatistics/Lettersandcirculars/Dearcolleagueletters/DH_4085464
11. ^ Collinge J, Harding AE, Owen F, Poulter M, Lofthouse R, Boughey AM, Shah T, Crow TJ. Diagnosis of Gerstmann-Straussler syndrome in familial dementia with prion protein gene analysis. Lancet 1989; 2: 15-7
12. ^ http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_073486
13. ^ http://www.cjdsupport.net