Towards a treatment for genetic prion disease: trials and biomarkers

SM Vallabh, EV Minikel, SL Schreiber… - The Lancet …, 2020 - thelancet.com
SM Vallabh, EV Minikel, SL Schreiber, ES Lander
The Lancet Neurology, 2020thelancet.com
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 …
Summary
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.
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