Clinical trial NCT02372773: Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
Official title: Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Familial Frontotemporal Dementia
Keywords: Frontotemporal Dementia
MAPT
PGRN
C9ORF72
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
Collaborators: name: National Institute on Aging (NIA)
name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2015-02-26
Enrollment: 398
Sex: ALL
Minimum age (years): 18
Maximum age (years): 90
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Have a mutation, or be a relative of an individual with a mutation, in one of the three most common genes associated with Frontotemporal Dementia - microtubule associated protein tau (MAPT), progranulin (PGRN; also known as granulin or GRN), or chromosome 9 open reading frame 72 (C9ORF72).

Brief summary: 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.

Detailed 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.

Eligibility 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.

Primary outcomes:
measure: Rate of decline in traditional measures of clinical (neuropsychological and behavioral composites) function and cortical volume on structural MRI in the symptomatic phase of familial FTD
timeFrame: 5 years
Secondary outcomes:
measure: Rate of decline in traditional measures of clinical (neuropsychological and behavioral composites) function and cortical volume on structural MRI in the asymptomatic phase of familial FTD
timeFrame: 5 years
measure: Value of novel imaging and clinical measures for characterizing asymptomatic familial FTD subjects, and factors predicting clinical rates of progression in each group.
timeFrame: 5 years
measure: Genetic and biofluid factors that modify rates of clinical and neuroimaging decline in the asymptomatic and symptomatic phases of familial FTD.
timeFrame: 5 years
Other outcomes:
Locations:
city: San Francisco
country: United States
facility: University of California, San Francisco, Memory and Aging Center, Department of Neurology
state: California
city: Jacksonville
country: United States
facility: Mayo Clinic Florida
state: Florida
city: Charlestown
country: United States
facility: Harvard University
state: Massachusetts
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: New York
country: United States
facility: Columbia University
state: New York
city: Philadelphia
country: United States
facility: Univerisity of Pennsylvania
state: Pennsylvania
city: Vancouver
country: Canada
facility: University of British Columbia
state: British Columbia
Study officials:
affiliation: Mayo Clinic
name: Bradley Boeve, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of California, San Francisco
name: Howard Rosen, MD
role: PRINCIPAL_INVESTIGATOR
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