Where to Turn for Research: Human Studies of eFAD


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University of Pittsburgh, PA

This is an ongoing study funded by the National Institute of Aging and private funding. It documents the natural history of amyloid deposition in presymptomatic carriers and other relatives of families with eFAD. It is the most advanced study characterizing the amyloid imaging tracer Pittsburgh Compound B (PIB), which was developed at this institution by William Klunk, Chester Mathis, and colleagues. PIB is now being evaluated at more than 25 academic institutions worldwide and has been incorporated into some ongoing clinical trials of experimental medicines in people with late-onset AD. This study focuses on brain imaging with positron emission tomography (for amyloid and brain metabolism) and MRI. However, the Pittsburgh group collaborates extensively with other scientists who focus on eFAD, and routinely refers interested families to the appropriate centers. For example, a recent scientific publication describing the findings from this group represents a collaboration with researchers from Pittsburgh; Massachusetts General and Brigham and Women's Hospitals in Boston; the University of Massachusetts in Worcester; and Drexel University in Philadelphia (see ARF related news story). The Pittsburgh study invites presymptomatic carriers back once a year over a 5-year period. It invites symptomatic carriers back 2 years after their initial scans to document how amyloid deposition has progressed. It also invites unaffected siblings of mutation carriers for a single study. At present, this study is focusing on volunteers in their twenties and early thirties but considers all subjects over age 18. See a brief description of this study.

Study Leader/Contact
William Klunk, M.D. Ph.D. 
Professor of Psychiatry and Neurology 
University of Pittsburgh Medical Center 
3811 O'Hara Street 
Pittsburgh, PA 15213 
Phone: 412-246-6460

Study Coordinator
Shelley Hulland 
UPMC Presbyterian 
200 Lothrop Street, B-938 
Pittsburgh, PA 15213 
Phone: 412-647-8264 
Fax: 412-647-5359 
E-mail: hullandsa@upmc.edu


  • Clinical assessment (medical evaluation and memory testing) at UPMC Alzheimer Disease Research Center.
  • MRI, PIB-PET, FDG PET (one IV line in the arm is required for the PET study; no other invasive procedures are performed).
  • Clinical-grade genetic testing can be arranged through the volunteer's local physician if necessary.

Family Support
This study pays for airfare for the volunteer and a partner, hotel room and meal expenses, and pays a small stipend for study participation each year. It also pays for clinical-grade genetic testing. The initial study is completed over two days and yearly return visits can be scheduled over 1 or 2 days. Interested families can contact Dr. Klunk or Ms. Hulland for more information or to be put in touch with a family who is participating in this study and is willing to share its experience confidentially.