Where to Turn for Research: Human Studies of eFAD

Massachusetts General Hospital, Boston

This institution has an ongoing eFAD imaging study that aims to understand how the appearance of amyloid relates to changes in brain function. The study welcomes carriers of eFAD mutations and their unaffected siblings. It tracks the earliest evidence of amyloid deposition in asymptomatic carriers years before symptoms are expected, and looks for evidence of any brain dysfunction during that time. In some instances, the work has been performed in collaboration with other research centers. The goals of the study include improved understanding of amyloid as a target for future preventive treatment.

Study Leaders/Contacts
Keith A. Johnson, M.D. 
Massachusetts General Hospital 
White 427 
55 Fruit St 
Boston, MA 02114 
Phone: 617-726-8351

Reisa Sperling, M.D., M.MSc. 
Brigham and Women's Hospital 
221 Longwood Avenue 
Boston, MA 02115 
Phone: 617-732-8085


  • A PIB-PET scan, an FDG-PET scan, structural and functional MRI.
  • Neuropsychological testing.
  • Clinical assessment.

Family Support
Limited reimbursement available to offset travel and lodging expenses.