1,618
Views
4
CrossRef citations to date
0
Altmetric
Editorial

Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials

, &
Pages 1313-1316 | Received 03 Sep 2020, Accepted 15 Oct 2020, Published online: 01 Nov 2020

Reference

  • Prusiner SB. Prions. Proc Natl Acad Sci USA. 1998;95:13363–13383.
  • Ladogana A, Kovacs GG. Genetic Creutzfeldt-Jakob disease. Handb Clin Neurol. 2018;153:219–242.
  • Appleby BS, Lyketsos CG. Rapidly progressive dementias and the treatment of human prion diseases. Expert Opin Pharmacother. 2011;12:1–12.
  • Forloni G, Roiter I, Tagliavini F. Clinical trials of prion disease therapeutics. Curr Opin Pharmacol. 2019;44:53–60.
  • Vallabh SM, Minikel EV, Schreiber SL, et al. Towards a treatment for genetic prion disease: trials and biomarkers. Lancet Neurol. 2020;19:361–368.
  • Minikel EV, Vallabh SM, Orseth MC, et al. Age at onset in genetic prion disease and the design of preventive clinical trials. Neurology. 2019;93:e125–e134.
  • Roettger Y, Du Y, Bacher M, et al. Immunotherapy in prion disease. Nat Rev Neurol. 2013;9:98–105.
  • Raymond GJ, Zhao HT, Race B, et al. Antisense oligonucleotides extend survival of prion-infected mice. JCI Insight. 2019;5:e131175.
  • Varges D, Manthey H, Heinemann U, et al. Doxycycline in early CJD: a double-blinded randomised phase II and observational study. J Neurol Neurosurg Psychiatry. 2017;88:119–125.
  • Forloni G, Tettamanti M, Lucca U, et al. Preventive study in subjects at risk of fatal familial insomnia: innovative approach to rare diseases. Prion. 2015;9:75–79.
  • Rudge P, Jaunmuktane Z, Adlard P, et al. Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years. Brain. 2015;138:3386–3399.
  • Steinacker P, Blennow K, Halbgebauer S, et al. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Sci Rep. 2016;6:38737.
  • Thompson A, Anastasiadis P, Druyeh R, et al. Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human prion diseases. MedRxiv. 2020. DOI:10.1101/2020.07.27.20157594.
  • Lee H, Rosenmann H, Chapman J, et al. Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers. Brain. 2009;132:2680–2687.
  • Cortelli P, Perani D, Montagna P, et al. Pre-symptomatic diagnosis in fatal familial insomnia: serial neurophysiological and 18FDG-PET studies. Brain. 2006;129:668–675.
  • Rudge P, Jaunmuktane Z, Hyare H, et al. Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. Brain. 2019;142:760–770.
  • Hermann P, Laux M, Glatzel M, et al. Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. Neurology. 2018;9:e331–e338.
  • Rhoads DD, Wrona A, Foutz A, et al. Diagnosis of prion diseases by RT-QuIC results in improved surveillance [published online ahead of print, 2020 Jun 22]. Neurology. 2020. DOI:10.1212/WNL.0000000000010086
  • Vallabh SM, Nobuhara CK, Llorens F, et al. Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development. Proc Natl Acad Sci U S A. 2019;116:7793–7798.
  • Miller T, Cudkowicz M, Shaw PJ, et al. Phase 1-2 trial of antisense oligonucleotide tofersen for SOD1 ALS. N Engl J Med. 2020;383:109–119.
  • De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019;29:842–856.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.