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Trial record 9 of 57 for:    neurology AND University AND San Francisco | Open Studies

Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2017 by Mayo Clinic
National Institute on Aging (NIA)
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Bradley Boeve, Mayo Clinic Identifier:
First received: February 20, 2015
Last updated: March 21, 2017
Last verified: March 2017
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.

Familial Frontotemporal Dementia

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects

Resource links provided by NLM:

Further study details as provided by Mayo Clinic:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]
  • 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 ]
  • 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 ]

Biospecimen Retention:   Samples With DNA
Blood - DNA, Plasma, Serum, Peripheral blood mononuclear cells, RNA, Cerebrospinal Fluid

Estimated Enrollment: 300
Study Start Date: April 2015
Estimated Study Completion Date: April 2019
Estimated Primary Completion Date: April 2019 (Final data collection date for primary outcome measure)
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.
Member of family with a known mutation in one of the three major FTD related genes: MAPT, PGRN, and C9ORF72.

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.


Ages Eligible for Study:   18 Years to 90 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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).

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02372773

Contact: Christina Dheel 507-293-5551
Contact: Josie Williams 507-293-5354

United States, California
University of California, San Francisco, Memory and Aging Center, Department of Neurology Recruiting
San Francisco, California, United States, 94358
Contact: Reilly Dever    415-476-0670   
Principal Investigator: Howard Rosen, MD         
United States, Florida
Mayo Clinic Florida Recruiting
Jacksonville, Florida, United States, 32224
Contact: Dana Haley    904-953-9680   
Principal Investigator: Neill Graff-Radford, MD         
United States, Massachusetts
Harvard University Recruiting
Charlestown, Massachusetts, United States, 02129
Contact: Samantha Krivensky    617-726-6205   
Principal Investigator: Bradford Dickerson, MD         
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Christina Dheel    507-293-5551   
Principal Investigator: Bradley Boeve, MD         
United States, Missouri
Washington University Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Lynne Jones    314-362-8420   
Principal Investigator: Nupur Ghoshal, MD, PhD         
United States, New York
Columbia University Recruiting
New York, New York, United States, 10032
Contact: Masood Manoochehri   
Principal Investigator: Edward Huey, MD         
United States, Pennsylvania
Univerisity of Pennsylvania Recruiting
Phildelphia, Pennsylvania, United States, 19104
Contact: Christina Ray    215-349-5873   
Principal Investigator: Murray Gossman, MD         
Canada, British Columbia
University of British Columbia Recruiting
Vancouver, British Columbia, Canada, V6T 2B5
Contact: Pheth Sengdy    604 822 7989   
Principal Investigator: Ging-Yeuk Hsiung, MD         
Principal Investigator: Ian Mackenzie, MD         
Sponsors and Collaborators
Mayo Clinic
National Institute on Aging (NIA)
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Bradley Boeve, MD Mayo Clinic
Principal Investigator: Howard Rosen, MD University of California, San Francisco
  More Information

Responsible Party: Bradley Boeve, Professor of Neurology, Mayo Clinic Identifier: NCT02372773     History of Changes
Other Study ID Numbers: 14-007532
U01AG045390 ( US NIH Grant/Contract Award Number )
Study First Received: February 20, 2015
Last Updated: March 21, 2017
Individual Participant Data  
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.

Keywords provided by Mayo Clinic:
Frontotemporal Dementia

Additional relevant MeSH terms:
Frontotemporal Dementia
Aphasia, Primary Progressive
Pick Disease of the Brain
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Frontotemporal Lobar Degeneration
TDP-43 Proteinopathies
Neurodegenerative Diseases
Proteostasis Deficiencies
Metabolic Diseases
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Signs and Symptoms processed this record on May 25, 2017