Registry of Creutzfeldt-Jakob disease and related disorders (19 years of activity: )
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1 !!! "#$%&' ( )* +* ' &, --%". / & 0123&445467&6844& Registry of Creutzfeldt-Jakob disease and related disorders (19 years of activity: ) Voluntary Notification: Mandatory Notification: since 2001! Maurizio Pocchiari Department of Cell Biology and Neurosciences maurizio.pocchiari@iss.it Human transmissible spongiform encephalopathies (TSE) (Prion diseases) Rare diseases -> 1-2 cases per million people per year Creutzfeldt-Jakob disease (CJD) - Different clinical and pathological phenotypes Fatal familial insomnia (FFI) Gerstmann-Sträussler-Scheinker syndrome (GSS) Fatal sporadic insomnia Animal TSEs Scrapie (sheep and goats) Bovine Spongiform Encephalopathy, BSE (cattle) Chronic Wasting Disease, CWD (cervids)
2 Human transmissible spongiform encephalopathies (TSE) (Prion diseases) Sporadic (transmissible) Genetic (mutation in the prion protein gene, yet transmissible) Acquired (long incubation period ranging from years to decades) 1993 The European collaborative study on CJD aimed: to study the frequency of human TSEs in Europe in relation to animal TSEs to assess the risk of human TSEs in relation to genetic, occupational, and nutritional factors The European study comprised: establishment of registries of TSE cases in European countries case-control study of risk factors for CJD molecular genetic studies of CJD
3 The European CJD Surveillance in 1993 Funded by the EU (Biomed programs) BSE in the UK and the rest of Europe 1992 BSE cases in the UK UK Rest of Europe Year BSE cases in the rest of Europe
4 1996 Description of a novel human TSE disease caused by the infection with the BSE agent: variant Creutzfeldt-Jakob disease The CJD Surveillance network in Europe
5 The CJD Surveillance Network in the World / / / / /34 Number of human TSE cases collected from 1993 to 2010 Number of cases Total number of cases Year of surveillance 0 Variant CJD cases are excluded
6 Difficulties Passive surveillance patients must be referred by physicians Very rare disease, most neurologists have seen no or a few cases Clinical variability No definitive in vitam diagnostic test Short clinical duration Need for a nationwide surveillance Different level of efficiency of the national health service in the country Linkage with mortality data from ISTAT Identification of risk factors Lag time of years or decades between the event and disease Choice of relevant controls Funding and recruitment of qualified medical personnel Management of sensitive data (including names of referred patients) Great interest of the media
7 Actions for promoting notification: Letter requesting the collaboration of neurological units Participation to national meetings of neurological associations Short form for notification (1 page) - Very few data are requested at notification Neurologists available for consultation - Telephone - Side visit Innovative diagnostic tests in the ISS Opportunities Help patient and their families Strong link with CJD national and international family associations Solving public health problems Working group on TSE incident panel Official classification of TSE cases National and international networking activities International committees for: Diagnostic criteria (ECDC, WHO) Public health measures (ECDC, EMA, WHO, OIE) Scientific knowledge
8 Weaknesses Absence of a friendly and complete EU database it should be available at the beginning of the study it should be as detailed as possible the ECDC database (TESSY) for variant CJD is not sufficient Absence of a programmed collection of samples Same type of samples should be collected for all patients and possibly for controls Detailed protocols should be prepared for collection and storage of samples Strengths: the five columns of CJD surveillance in Europe 1. Surveillance run by experts of TSEs 2. Freedom to organise and run the surveillance in each country 3. Common diagnostic criteria 4. Annual or bi-annual meetings i. Education of people (young scientists and scientists from new-entry countries) ii. Sharing achievements and failures 5. Wish to collaborate and share data
9 MRI STUDY
10 What has changed over the past 20 years Neurologists are more aware of CJD The diagnosis of CJD is better, but probably not quicker There has been significant funding for CJD research, but this is in decline Relatives of people with CJD have access to information on the internet and from family support groups What has not changed over the past 20 years There is no blood test for CJD infection We do not really know why the brain is damaged in CJD There is no proven treatment for CJD There is still a lot to learn about CJD
11 Acknowledgments Patients and their families Italian neurologists and pathologists The staff of the Registry of CJD and related disorders (past and present): Susanna Almonti - Carla Arpino Simona Bevivino - Franco Cardone Marco D Alessandro - Marco Del Re Michele Equestre - Alessandra Garozzo Loredana Ingrosso - Anna Ladogana Vittorio Mellina - Rosella Petraroli Anna Poleggi - Maria Puopolo Viviana Renzi - Mirella Salvatore Marco Sbriccoli - Alessandra Scontrini Dorina Tiple
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