Studies

Development in Families with Neurodegenerative Disease

  • Study Directors: Suzee Lee, MD, and Maria Luisa Gorno Tempini, MD, PhD

  • Sponsor: National Institutes of Health

  • Official Study Title: Development in Families with Neurodegenerative Disease

  • Conditions Studied:

    • Childhood development in families with frontotemporal dementia (FTD) caused by genetic variation in a gene associated with FTD, such as microtubule associated protein tau (MAPT), progranulin (known as granulin or GRN), or chromosome 9 open reading frame 72 (C9ORF72).

    • Childhood development in families with Alzheimer’s disease (AD) caused by variation in a gene associated with AD, such as presenilin (PSEN) 1 or 2, or amyloid precursor protein (APP).

    • Childhood development in participants with neurodevelopmental differences such as developmental dyslexia, attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).

Purpose of the Study

The goal of this study is to understand brain development in children from families with a history of frontotemporal dementia (FTD) or Alzheimer’s disease (AD) compared to participants without gene mutations and participants with neurodevelopmental differences without a history of familial neurodegenerative disease.

Study Details

Inclusion criteria:

  1. Aged 7–17. Young adults up to 25 may be eligible.

  2. Must be a member of a family with a known genetic mutation for FTD or AD. The participant and their family members will not learn their mutation status.

  3. Participant is sufficiently fluent in English or Spanish 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 the 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, emotions testing, cognitive testing, MRI scan, questionnaires, and a saliva sample for genetic analyses.

Time Needed for the Visit: Participation in the study takes about 9 to 11 hours spread over two to three consecutive days. 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 monetary compensation for the study. Travel, lodging and meals for the study visit will be reimbursed.

Contact Information

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