Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)

Purpose of the Study

The goal of this study is to support the development of FTLD therapies through a multi-site research consortium headquartered at UCSF. The study aims to determine the clinical, genetic, and biomarker profiles of FTLD syndromes where there is a strong correlation between clinical syndrome and underlying pathology (FTD-ALS, PSP and semantic variant PPA (svPPA)). The study also aims to determine the natural history of familial FTLD using novel clinical measures.

Study Details

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

Inclusion criteria: Participants must be between the ages of 18 and 85, and meet criteria for an FTLD syndrome OR have a strong family history of FTLD. Participants will need a reliable study partner who has frequent contact with the participant, is available to provide information about the participant, and who can accompany the participant to research visits as needed. All participants must be willing and able to undergo testing procedures. Participants with a family history of FTLD must be willing to return for a follow-up visit in 12 months.

Exclusion criteria: Any significant neurological disease other than an FTLD syndrome, such as multi-infarct dementia, Huntington’s disease, normal pressure hydrocephalus, brain tumor, seizure disorder, subdural hematoma, multiple sclerosis, or history of significant head trauma followed by persistent neurological deficits or known structural brain abnormalities. Any significant systemic illness or unstable medical condition. The presence of pacemakers, aneurysm clips, artificial heart valves, ear implants, metal fragments or foreign objects in the eyes, skin or body. Longstanding (>10 years) history of alcohol or substance abuse with continuous abuse up to and including the time that the symptoms leading to clinical presentation developed. Longstanding (>10 years) history of major depression, bipolar disorder, or schizophrenia that has had continuous or intermittent symptoms similar to the clinical presentation and requiring medication control up until the time of evaluation.

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; MRI brain scans; 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 cell line generation and biomarker analysis. Participants with a diagnosis of PSP will be asked to undergo a lumbar puncture (LP) for CSF specimen collection for biomarker analysis. Participants may be asked to participate in additional studies affiliated with this project.

The Frequency of Visits: All participants will be asked for an initial visit, which may be spread over several days. Participants with a family history of FTLD will be to come in for up to an additional follow-up visit in approximately 12 months. 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 $25 per in-person visit to compensate for time, effort, and travel expenses.

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.