Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

July 30, 2020 updated by: Bradley Boeve, Mayo Clinic
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.

Study Overview

Status

Completed

Conditions

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

Enrollment (Actual)

398

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • British Columbia
      • Vancouver, British Columbia, Canada, V6T 2B5
        • University of British Columbia
  • United States
    • California
      • San Francisco, California, United States, 94358
        • University of California, San Francisco, Memory and Aging Center, Department of Neurology
    • Florida
      • Jacksonville, Florida, United States, 32224
        • Mayo Clinic Florida
    • Massachusetts
      • Charlestown, Massachusetts, United States, 02129
        • Harvard University
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Washington University
    • New York
      • New York, New York, United States, 10032
        • Columbia University
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Univerisity of Pennsylvania

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 90 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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).

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
5 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
5 years
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
5 years
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
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Mayo Clinic

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)
National Institute on Aging (NIA)

Investigators

  • Principal Investigator: Howard Rosen, MD, University of California, San Francisco

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2015

Primary Completion (Actual)

June 30, 2020

Study Completion (Actual)

June 30, 2020

Study Registration Dates

First Submitted

February 20, 2015

First Submitted That Met QC Criteria

February 20, 2015

First Posted (Estimate)

February 26, 2015

Study Record Updates

Last Update Posted (Actual)

August 3, 2020

Last Update Submitted That Met QC Criteria

July 30, 2020

Last Verified

July 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14-007532
  • U01AG045390 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

IPD Plan Description

De-identified data can be shared following a formal request and approval by the executive committee overseeing the protocol.

IPD Sharing Time Frame

De-identified data is available throughout course of the protocol.

IPD Sharing 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

IPD Sharing Supporting Information Type

  • Study Protocol

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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