Istituto Superiore di Sanita, Rome (Italian national CJD registry; EUROCJD partner)

Key facts

• ISS is a public research body supervised by the Ministry of Health, governed by Legislative Decree 106/2012 and Legislative Decree 218/2016; its President since 19 December 2023 is Rocco Domenico Alfonso Bellantone, appointed by Prime Minister decree for four years.
• Department directors at ISS are chosen by public selection for a renewable three-year term; Daniela Merlo ranked first in the selection announced on 7 January 2025 and was appointed Director of the Department of Neuroscience from 1 August 2025 by decree of 30 July 2025.
• The National CJD Registry was set up at ISS in 1993, sits in the Department of Neuroscience, works under a surveillance protocol approved by the ISS ethics committee (CE-ISS 09/266) and employs physicians, biochemists, molecular biologists, statisticians and coordinators.
• Surveillance has run since January 1993 within a European project set up after the UK BSE epidemic, with suspect cases classified by the criteria of the international CJD surveillance network; a summary table of suspect reports and definite or probable deaths was last updated on 30 October 2025.
• A Ministry of Health decree of 21 December 2001 made surveillance of suspected and confirmed variant CJD and related syndromes, explicitly including GSS and fatal familial insomnia, mandatory, and required neuropathological examination when a patient dies with suspected variant CJD; regions named their own reference structures for autopsy.
• The registry staff list revised on 6 November 2024 names Anna Ladogana MD as Responsible, National Registry of CJD, with two consultant neurologists, a molecular genetics scientist, a biochemical test technician, a neuropathology scientist, a research scientist, a secretariat officer and a privacy technologist; Maurizio Pocchiari is not listed.
• Services for physicians include PrP RT-QuIC on cerebrospinal fluid and genetic analysis, with consent forms for genetic diagnostics, genetic research and CSF, urine, olfactory mucosa and saliva samples; the registry no longer runs the CSF 14-3-3 test, and no prices are shown.
• Physicians notify new cases by form, electronically or by fax, with a copy to the local health authority and the Ministry of Health, and ship samples under a procedure revised in 2023; the service kept running through the COVID-19 pandemic.
• Stated aims include finding environmental and genetic risk factors, including surgery, transfusion and possible animal to human transmission, and research on diagnostic criteria, biomarkers, human TSE strains and genetic prion disease, in collaboration with regional reference centres, the Ministry of Health, the National Blood Centre and international surveillance centres.
• ISS registry staff took part in the international ring trial of second-generation RT-QuIC (Annals of Clinical and Translational Neurology 2020) as a testing laboratory and a source of CSF and olfactory mucosa samples, alongside NIAID Rocky Mountain Laboratories, Verona, the US National Prion Disease Pathology Surveillance Center, Edinburgh and Sorbonne Universite.
• The registry has a long genetic prion disease record: ISS authors contributed to the EUROCJD analysis showing that 10 to 15 percent of human prion disease carries a disease-specific PRNP mutation, to a 2013 study of 41 parent and offspring pairs in the southern Italian E200K cluster, and to a 2018 study with Bologna and Erasmus on CYP4X1 as a modifier of age at onset in E200K and sporadic CJD.
• Recent registry output includes a September 2025 report of a novel PRNP A118V variant with Bari, a 599-case cohort on sex differences in sporadic CJD (August 2026), a 181-patient study of rapidly progressive dementia with parkinsonism funded by ISS (September 2026), and an April 2026 Annals of Neurology study of the cortical sporadic CJD subtype led by the Bologna group.
• A separate ISS prion strain group works with Mario Negri Milan on animal models; a February 2026 Acta Neuropathologica paper on D178N in RML prions was funded by an Italian Ministry of Health targeted research grant (RF-2016-02362950).
• Funding visible from public pages is institutional plus donations: the registry accepts bank transfers to ISS marked for the CJD registry and points to the ISS 5 per mille scheme, with no amounts, targets or reports; no grant calls are run by the registry.
• The registry links publicly to the UK National CJD Research and Surveillance Unit, EUROCJD, Sante publique France, ISCIII Spain, the Italian association AIEnP, the CJD Foundation, three CJD support networks and ECDC; this is a link list, not a stated partnership.
• The CJD Foundation funded ISS prion research in 2009 through a Stephen D. Able Memorial grant to Maurizio Pocchiari on pentosan polysulphate delivery for prion disease therapy.
• In 2025 to 2026 Europe PMC lists 23 papers with an ISS affiliation matching prion or Creutzfeldt, about half of them on human or animal prion disease.

Timeline

1. 1993National surveillance of CJD starts at ISS within a European project after the UK BSE epidemic; the registry is established the same year.
2. 2001Ministry of Health decree makes surveillance of variant CJD and related syndromes, including GSS and FFI, mandatory.
3. 2009CJD Foundation Stephen D. Able Memorial grant to Maurizio Pocchiari at ISS for prion therapy delivery research.
4. 2013PLoS One study by ISS authors of 41 parent and offspring pairs in the southern Italian E200K cluster.
5. 2018J Neurol Neurosurg Psychiatry study with Bologna and Erasmus on CYP4X1 and age at onset in E200K and sporadic CJD.
6. 2020ISS takes part in the international ring trial of second-generation RT-QuIC on CSF and olfactory mucosa.
7. 2023Sample shipping procedure for the registry revised.
8. 2024Registry staff list revised, naming Anna Ladogana as responsible.
9. 2025ISS announces the public selection for Director of the Department of Neuroscience.
10. 2025Daniela Merlo takes office as Director of the Department of Neuroscience, appointed by decree of 2025-07-30.
11. 2025J Neurol report with Bari of a novel PRNP A118V variant.
12. 2025Registry Table 1 of suspect case reports and definite or probable deaths updated.
13. 2026Acta Neuropathologica paper with Mario Negri on D178N and RML prion strains.
14. 2026Registry home, services, links and donation pages last modified.
15. 2026Annals of Neurology study of the cortical sporadic CJD subtype with Bologna.
16. 2026J Neurol registry cohort of 599 sporadic CJD cases on sex differences.
17. 2026Parkinsonism and Related Disorders registry study of rapidly progressive dementia with parkinsonism.