Longitudinal Evaluation of Familial Frontotemporal Dementia (LEFFTDS)
The purpose of this study is to learn about thinking and behavior in families in which one or more relatives has a genetic mutation associated with frontotemporal dementia.
|Minimum Age||Maximum Age||Gender||Healthy Volunteers|
|18 Years||90 Years||Both||Yes|
- Member of family with a known mutation in one of the three major genes related to frontotemporal dementia: MAPT, PGRN, or C9ORF72
- Predominant type of dementia is cognitive/behavioral
- Reliable family member, friend, or caregiver who speaks with or sees the participant at least weekly
- Fluent in English
- Willing and able to undergo neuropsychological testing (at least at baseline visit)
- Contraindication to magnetic resonance brain imaging
- Known presence of a structural brain lesion, such as a tumor or cortical infarct
- Presence of another neurological disorder that could impact the study results
This observational study will enroll people from families affected by familial frontotemporal dementia. At least one relative must have a known mutation in the MAPT, PGRN, or C9ORF72 genes. The study will include 100 mutation carriers with mild dementia or minimal symptoms but no dementia, 100 mutation carriers without symptoms, and 100 clinically normal noncarriers.
Participants will undergo assessments, including different kinds of magnetic resonance imaging; magnetic resonance spectroscopy; cerebrospinal fluid and blood sampling; and behavioral, neuropsychological, and functional tests. Investigators will measure changes in cognition during 3 years shown by these test results.
A primary goal of this study is to identify the most robust and reliable methods to track disease progression in familial frontotemporal dementia so that clinical trials of disease-modifying therapies can be designed appropriately.
University of California, San Francisco, Memory and Aging Center, Department of Neurology
Mayo Clinic Florida
||New York||New York||10032||Recruiting||
University of Pennsylvania
University of British Columbia
||Vancouver||British Columbia||V6T 2B5||Recruiting||
604 822 7989
- National Institute on Aging (NIA)
- National Institute of Neurological Disorders and Stroke (NINDS)
|Bradley Boeve, MD||Principal Investigator||Mayo Clinic|
|Howard Rosen, MD||Principal Investigator||University of California, San Francisco|
|Leah Forsberg, PhDfirstname.lastname@example.org|
Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects