Tracking Longitudinal Change in Presymptomatic Genetic Prion Disease

  • Study Director: Michael Geschwind, MD, PhD
  • Sponsor: National Institutes of Health
  • Official Study Title: TLC-Pre-gPrD: Tracking Longitudinal Change in Presymptomatic genetic Prion Disease
  • Conditions Studied: Genetic prion disease, genetic transmissible spongiform encephalopathies

Purpose of the Study

The main goal of this project is to identify and develop biomarkers to be used in treatment trials for presymptomatic genetic prion disease (gPrD). Genetic prion diseases include familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and other related conditions. Therapies for prion diseases are currently under development, but in order to prepare for these trials, it is necessary to identify markers sensitive to biological changes in early disease stages, when symptoms have not yet developed (i.e, presymptomatic phase). Presymptomatic individuals from families with gPrD are ideal targets for therapeutic trials to delay, or prevent, the onset of prion disease when the disease is in its earliest stages.

Study Details

  • Inclusion Criteria: Persons with known prion protein gene, PRNP, mutations, persons from a family with gPrD who do not carry a PRNP mutation, and persons at-risk for gPrD (no PRNP genetic testing, but come from a family with gPrD). Must have a study partner who has frequent contact with the study participant and is available to provide information about the participant.
  • Exclusion Criteria: No family history of gPrD. Unable to undergo MRI due contraindication to this procedure (e.g., pacemaker, pregnant women).

What to Expect

  • Assessment & Testing: Outpatient visits usually take place over two days and include the following: Detailed medical, family, and social history; general physical & neurological examination; lumbar puncture (spinal tap); cognitive testing; blood draw; MRI of the brain; quantitative motor testing; optical coherence tomography scans of the eye; olfactory mucosa swabbing and/or skin biopsy.
  • The Frequency of Visits: Study participants who are presymptomatic or asymptomatic are asked to return once annually.
  • Materials Needed Before Evaluation: Medical records establishing a family medical history of gPrD (e.g., genetic testing, pathology report of family member).
  • Costs: No costs will be charged for any of the study procedures. Parking will be validated for the 1625 Owens Street Garage or 1630 Third Street Garage at the UCSF Mission Bay campus for all study visits. There is no monetary compensation for participation.

Contact information

If you are interested in participating in this study or have any questions, please contact the study coordinator at [email protected] or 415.476.8791.