Development in Families with Frontotemporal Dementia

  • Study Directors: Suzee Lee, MD, and Maria Luisa Gorno Tempini, MD, PhD
  • Sponsor: Weill Trailblazer Award
  • Official Study Title: Development in Families with Frontotemporal Dementia
  • Conditions Studied: Childhood development in families with frontotemporal dementia (FTD) caused by genetic variation in one of the three most common genes associated with FTD: microtubule associated protein tau (MAPT), progranulin (known as granulin or GRN), or chromosome 9 open reading frame 72 (C9ORF72).

Purpose of the Study

The goal of this study is to understand brain development in children from families with frontotemporal dementia.

Study Details

Inclusion criteria:

  1. Aged 7–17
  2. 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 will not learn their own genetic status
  3. Participant is sufficiently fluent in English to complete all measures
  4. Participant must have no contraindication to MRI imaging
  5. Participant must be accompanied by an adult as a study informant (e.g., parent, other relative, close family friend who knows child well)

Exclusion criteria:

  1. Presence of another neurologic disorder that could impact findings (e.g., multiple sclerosis)
  2. Participant is unwilling to undergo cognitive testing and MRI scan

What to Expect

Testing: A neurological examination, cognitive testing, MRI scan, and a saliva sample for genetic analyses.

The Frequency of Visits: It is recommended to complete the study over three consecutive days, each lasting around 4–5 hours. We will do our best to work with you to accommodate any scheduling needs.

Materials Needed Before Evaluation: None

Costs: No costs will be charged for any of the study procedures. Participants will receive a small prize, such as a picture of their brain. 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 Dr. Suzee Lee at [email protected].