Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

Mayo Clinic

Status: Completed

Conditions: Familial Frontotemporal Dementia

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT02372773

U01AG045390 (U.S. NIH Grant/Contract)

14-007532

Details and patient eligibility

About

This study is being done to learn more about normal thinking and behavior, mild thinking and behavior problems, Frontotemporal Dementia and other forms of dementia in families in which one or more relatives have a mutation associated with Frontotemporal Dementia.

Full description

This multicenter study will enroll 300 members of familial Frontotemporal Dementia (FTD) families across 8 experienced FTD research centers with a known mutation in MAPT, PGRN, or C9ORF72 (100 mutation carriers with mild dementia or minimally symptomatic yet non-demented, 100 asymptomatic mutation carriers, and 100 clinically normal relatives who are non-mutation carriers) to obtain annual assessments including T1-MRI, FLAIR, diffusion tensor imaging (DTI), ASL perfusion (ASLp), intrinsic connectivity functional MRI (icfMRI), MR spectroscopy (MRS), CSF, blood, and behavioral, neuropsychological and functional assessment, for a total of three assessments per participant.

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.

Enrollment: 398 patients

Sex: All

Ages: 18 to 90 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria:

1. Must be a member of family with a known mutation in one of the three major FTLD related genes: MAPT, PGRN, or C9ORF72.
2. At least 18 years of age.
3. The predominant phenotype in the kindred must be cognitive/behavioral (ie, kindreds 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 which could impact findings (eg, multiple sclerosis).
3. Subject is unwilling to return for follow-up yearly, undergo neuropsychological testing and MR imaging.
4. Subject has no reliable informant.

Trial design

398 participants in 4 patient groups

Frontotemporal Dementia - MAPT

Description:

Frontotemporal Dementia with microtubule associated protein tau (MAPT) mutation

Frontotemporal Dementia - PGRN

Description:

Frontotemporal Dementia with progranulin (PGRN; also known as granulin or GRN) mutation

Frontotemporal Dementia - C9OR72

Description:

Frontotemporal Dementia with chromosome 9 open reading frame 72 (C9ORF72) mutation.

Control

Description:

Member of family with a known mutation in one of the three major FTD related genes: MAPT, PGRN, and C9ORF72.