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Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

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ClinicalTrials.gov Identifier: NCT02372773
Recruitment Status : Recruiting
First Posted : February 26, 2015
Last Update Posted : April 3, 2020
Sponsor:
Collaborators:
National Institute on Aging (NIA)
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Bradley Boeve, Mayo Clinic

Tracking Information
First Submitted Date February 20, 2015
First Posted Date February 26, 2015
Last Update Posted Date April 3, 2020
Study Start Date April 2015
Estimated Primary Completion Date June 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 30, 2019)
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 [ Time Frame: 5 years ]
neuropsychological, clinical/behavioral, neuroimaging measures
Original Primary Outcome Measures
 (submitted: February 20, 2015)
To model the rates 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 [ Time Frame: 5 years ]
Change History
Current Secondary Outcome Measures
 (submitted: May 30, 2019)
  • 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 [ Time Frame: 5 years ]
    neuropsychological, clinical/behavioral, neuroimaging measures
  • Value of novel imaging and clinical measures for characterizing asymptomatic familial FTD subjects, and factors predicting clinical rates of progression in each group. [ Time Frame: 5 years ]
    neuropsychological, clinical/behavioral, neuroimaging measures
  • Genetic and biofluid factors that modify rates of clinical and neuroimaging decline in the asymptomatic and symptomatic phases of familial FTD. [ Time Frame: 5 years ]
    genetic and biolfuid factors
Original Secondary Outcome Measures
 (submitted: February 20, 2015)
  • To model the rates 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 [ Time Frame: 5 years ]
  • To assess the value of novel imaging and clinical measures for characterizing asymptomatic familial FTD subjects, and identify factors predicting clinical rates of progression in each group. [ Time Frame: 5 years ]
  • To identify genetic and biofluid factors that modify rates of clinical and neuroimaging decline in the asymptomatic and symptomatic phases of familial FTD. [ Time Frame: 5 years ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
Official Title Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
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.

Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood - DNA, Plasma, Serum, Peripheral blood mononuclear cells, RNA, Cerebrospinal Fluid
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).
Condition Familial Frontotemporal Dementia
Intervention Not Provided
Study Groups/Cohorts
  • Frontotemporal Dementia - MAPT
    Frontotemporal Dementia with microtubule associated protein tau (MAPT) mutation
  • Frontotemporal Dementia - PGRN
    Frontotemporal Dementia with progranulin (PGRN; also known as granulin or GRN) mutation
  • Frontotemporal Dementia - C9OR72
    Frontotemporal Dementia with chromosome 9 open reading frame 72 (C9ORF72) mutation.
  • Control
    Member of family with a known mutation in one of the three major FTD related genes: MAPT, PGRN, and C9ORF72.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 20, 2015)
300
Original Estimated Enrollment Same as current
Estimated Study Completion Date June 2020
Estimated Primary Completion Date June 2020   (Final data collection date for primary outcome measure)
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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 90 Years   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Leah Forsberg, Ph.D. 507-293-5551 forsberg.leah@mayo.edu
Contact: Josie Williams 507-293-5354 williams.josie@mayo.edu
Listed Location Countries Canada,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02372773
Other Study ID Numbers 14-007532
U01AG045390 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: De-identified data can be shared following a formal request and approval by the executive committee overseeing the protocol.
Supporting Materials: Study Protocol
Time Frame: De-identified data is available throughout course of the protocol.
Access Criteria: De-identified data can be shared following a formal request and approval by the executive committee overseeing the protocol. Requests can be made be completing the data request form at this site: https://ucsf.co1.qualtrics.com/jfe/form/SV_e4BBGMiXV7HRTg1
URL: https://ucsf.co1.qualtrics.com/jfe/form/SV_e4BBGMiXV7HRTg1
Responsible Party Bradley Boeve, Mayo Clinic
Study Sponsor Mayo Clinic
Collaborators
  • National Institute on Aging (NIA)
  • National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Principal Investigator: Bradley Boeve, MD Mayo Clinic
Principal Investigator: Howard Rosen, MD University of California, San Francisco
PRS Account Mayo Clinic
Verification Date April 2020