Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

  • Study Directors: Howard Rosen, MD, and Adam Boxer, MD, PhD
  • Sponsor: National Institutes of Health (NIH)
  • Official Study Title: Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)
  • Conditions Studied: Familial frontotemporal dementias caused by genetic variation in one of the three most common genes associated with frontotemporal dementia: microtubule associated protein tau (MAPT), progranulin (known as granulin or GRN), or chromosome 9 open reading frame 72 (C9ORF72). Healthy members of families with a known genetic variant are also enrolled.

Purpose of the Study

A primary goal of this study is to identify the most robust and reliable methods to track disease progression in familial FTD so that disease-modifying therapeutic trials can be designed appropriately. The study aims to determine the natural history of familial FTLD using novel clinical measures.

Study Details

Please see the LEFFTDS website for more information about the study.

Inclusion criteria:

  1. Must be a member of a family with a known mutation in one of the three major FTLD related genes: MAPT, GRN or C9ORF72. The participant does not have to know their own genetic status.
  2. At least 18 years of age.
  3. The predominant phenotype in the family must be cognitive/behavioral (i.e, families in whom parkinsonism or ALS is the predominant clinical phenotype among affected relatives may be excluded)
  4. Have a reliable informant who personally speaks with or sees that subject at least weekly.
  5. Subject is sufficiently fluent in English to complete all measures
  6. Subject must be willing and able to consent to the protocol and undergo yearly evaluations over 3 years.
  7. Subject must be willing and able to undergo neuropsychological testing (at least at baseline visit).
  8. Subject must have no contraindication to MRI imaging.

Exclusion criteria:

  1. Known presence of a structural brain lesion (e.g., tumor, cortical infarct).
  2. Presence of another neurologic disorder that could impact findings (e.g, multiple sclerosis).
  3. Subject is unwilling to return for follow-up yearly, undergo neuropsychological testing and MR imaging.
  4. Subject has no reliable informant.

What to Expect

Testing: Participants may be asked to undergo the following testing procedures, though not all participants will be asked to undergo every procedure: neurological and physical examinations; interview with study partner; cognitive testing; daily functioning assessments; computer-based tests of decision-making and executive functioning; detailed family history; behavioral testing; speech and language evaluation; questionnaires for the participant and study partner; and blood collection for biomarker analysis and cell line generation. Participants will be asked to undergo a lumbar puncture (LP) for CSF specimen collection for biomarker analysis and an MRI brain scan. Participants may be asked to participate in additional studies affiliated with this project.

The Frequency of Visits: All participants will be asked for a minimum of three annual visits, which may be spread over several days. Participants will be assessed at the UCSF Memory and Aging Center and the UCSF Neuroscience Imaging Center.

Materials Needed Before Evaluation: None

Costs: No costs will be charged for any of the study procedures. Participants will receive modest payment per in-person visit to compensate for time and effort. Travel and lodging for the study will be reimbursed.

Contact Information

If you are interested in participating in this study or have any questions, please contact the study coordinator, Reilly Dever, at Reilly.Dever@ucsf.edu or 415.476.0670.