Mar 22, 2020

Towards a treatment for genetic prion disease: trials and biomarkers

Lancet Neurology
Sonia M VallabhEric S Lander

Abstract

Prion disease is a rare, fatal, and exceptionally rapid neurodegenerative disease. Although incurable, prion disease follows a clear pathogenic mechanism, in which a single gene gives rise to a single prion protein (PrP) capable of converting into the sole causal disease agent, the misfolded prion. As efforts progress to leverage this mechanistic knowledge toward rational therapies, a principal challenge will be the design of clinical trials. Previous trials in prion disease have been done in symptomatic patients who are often profoundly debilitated at enrolment. About 15% of prion disease cases are genetic, creating an opportunity for early therapeutic intervention to delay or prevent disease. Highly variable age of onset and absence of established prodromal biomarkers might render infeasible existing models for testing drugs before disease onset. Advancement of near-term targeted therapeutics could crucially depend on thoughtful design of rigorous presymptomatic trials.

  • References
  • Citations

References

  • We're still populating references for this paper, please check back later.
  • References
  • Citations

Citations

  • This paper may not have been cited yet.

Mentioned in this Paper

Neurodegenerative Disorders
Genes
Pharmacologic Substance
PRNP
Prion Diseases
Abnormal Glucose Tolerance Test
Agent
Biological Markers
Clinical Trials
Prions

Related Feeds

ALS: Prions

Prions are misfolded proteins which characterize several fatal neurodegenerative diseases. Prion-like mechanisms are associated with the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Here are the latest discoveries pertaining to this disease.

Related Papers

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine
Hidehiro Mizusawa
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine
Masaki Hizume, Hidehiro Mizusawa
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine
N Nishida, T Miyamoto
British Journal of Hospital Medicine
C A Hart
The New England Journal of Medicine
R T Johnson
© 2020 Meta ULC. All rights reserved