The Generative Brain

Registries and cohorts

Prion disease registries are national or regional surveillance systems. Japan's ten-year programme classified 1,222 patients, EuroCJD links EU and EEA countries through ECDC, and the US relies on a national pathology centre. Their classification rules and year ranges differ, so counts are not directly comparable.

A registry is useful to researchers for case counts, classification and follow-up. This page describes five sources that were opened. It covers some national systems, not all, and the canadian and several European national pages listed in the Atlas could not be read for this brief.

What do national surveillance registries record?

Japan

The Creutzfeldt-Jakob Disease Surveillance Committee, Japan, ran prospective surveillance for ten years from 1999 (Nozaki and colleagues, Brain 2010). Of 1,685 suspected patients, 1,222 were judged to have prion disease: 180 definite (14.7 percent), 1,029 probable (84.2 percent) and 13 possible (1.1 percent), with possible cases included only for dura mater graft-associated CJD. Of these, 922 were sporadic (75.5 percent), 216 genetic (17.7 percent), 81 acquired (6.6 percent; 80 dura mater graft and 1 variant CJD) and 3 unclassified. Annual incidence ranged from 0.65 per million in 1999 to 1.10 in 2006, averaging 0.85. The commonest genetic variants were V180I at 41.2 percent, P102L, E200K and M232R, a pattern the authors say differs from Europe. They note that V180I and M232R patients rarely had a family history, so genetic testing is needed to tell them apart from sporadic CJD.

Europe

The EuroCJD network was set up in 1993 by seven countries. Members are experts nominated by national competent bodies in EU and EEA countries, and the network is coordinated for ECDC by the National CJD Research and Surveillance Unit in Edinburgh. Member States report new incident cases to ECDC’s TESSy database as probable cases under the EU case definition, and confirmation depends on post-mortem neuropathology. An earlier EU project (1998 to 2001) was coordinated by the University of Edinburgh. Its aims were agreed diagnostic criteria for classical and variant CJD, coordinated surveillance and harmonised data collection and analysis, and analysis of variant CJD risk factors.

United States

The National Prion Disease Pathology Surveillance Center coordinates autopsy and neuropathology for suspected cases across the country, and lists annual referral and confirmed case data among its programmes. Its page lists biospecimen and data requests as a programme but does not state terms.

Is there a registered cohort of people without symptoms?

ClinicalTrials.gov records NCT04846335, a phase 2 trial of preventive doxycycline in people at genetic risk of fatal familial insomnia, sponsored by the Mario Negri Institute for Pharmacological Research. It started on 28 April 2011, completed on 30 November 2024 and enrolled 29. The record gave no posted results when read, and this page does not report any efficacy outcome. The sponsor’s and participants’ details are not described further.

What are the limits when comparing registries?

  • Classification differs. Japan counted possible cases for graft-associated CJD only, while the EU network counts probable cases for reporting.
  • Year ranges differ, and country patterns can reflect local exposure, such as the dura mater graft cluster in Japan.
  • Whether cases can be linked to samples, genotypes and follow-up depends on each registry. The pages read do not say.

Related Atlas entries include the CJD Foundation, France CJD surveillance and ISS Rome. See also datasets, the resources hub and national surveillance systems.

Sources for this page