PROSPECT is a study open to people who are known carriers of prion protein gene (PRNP) mutations and to those who are at risk of inheriting a prion disease mutation.  Those who are at risk are defined as a first-degree relative of someone with a known prion protein gene mutation or someone who is a first degree relative with two or more individuals in their family who passed from prion disease for which their genetic status is unknown.  This prospective study will follow people annually over Zoom and will involve answering questions and doing standardized surveys.  It will also collect very valuable data that will assist in determination of prion protein gene mutation penetrance, drug development, and clinical trials.  This is an open data study – the data will be deidentified and available to be aggregated and shared with other prion disease researchers, including drug developers.

For now, the study will focus on people who have already been tested and know that they carry a prion disease mutation.  Once enrolled and consented, they will be asked to provide documentation of the mutation and meet through a remote link with study staff for cognitive and neuropsychiatric assessments and other steps.

In the near future, the study will also include people at risk who wish to be tested.  The testing process includes:

• Free remote Genetic Counseling through a professionally trained genetics counselor
• Free testing through saliva sample.  The test results will be anonymous and deidentified as part of the study.  Participants can opt to learn or not learn their test results.