Trial record 9 of 24 for:    neurology AND University AND San Francisco | Open Studies | Exclude Unknown

Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2015 by Mayo Clinic
Sponsor:
Collaborators:
Information provided by (Responsible Party):
Bradley Boeve, Mayo Clinic
ClinicalTrials.gov Identifier:
NCT02372773
First received: February 20, 2015
Last updated: April 30, 2015
Last verified: April 2015
  Purpose

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.


Condition
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 ] [ Designated as safety issue: No ]

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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]
  • 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 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Blood - DNA, Plasma, 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)
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.

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

Ages Eligible for Study:   18 Years to 90 Years
Genders Eligible for Study:   Both
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).

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.
  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 ClinicalTrials.gov identifier: NCT02372773

Contacts
Contact: Christina Dheel 507-293-5551 dheel.christina@mayo.edu
Contact: Josie Williams 507-293-5354 williams.josie@mayo.edu

Locations
United States, California
University of California, San Francisco, Memory and Aging Center, Department of Neurology Recruiting
San Francisco, California, United States, 94358
Contact: Aly Caplan    415-467-0671    alyssa.caplan@ucsf.edu   
Principal Investigator: Howard Rosen, MD         
United States, Florida
Mayo Clinic Florida Recruiting
Jacksonville, Florida, United States, 32224
Contact: Dana Haley    904-953-9680    Haley.Dana@mayo.edu   
Principal Investigator: Neill Graff-Radford, MD         
United States, Massachusetts
Harvard University Not yet recruiting
Charlestown, Massachusetts, United States, 02129
Contact: Kate Kelly    617-726-6205    KKELLY23@mgh.harvard.edu   
Principal Investigator: Bradford Dickerson, MD         
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Christina Dheel    507-293-5551    dheel.christina@mayo.edu   
Contact: Josie Williams    507-293-5354    williams.josie@mayo.edu   
Principal Investigator: Bradley Boeve, MD         
United States, Missouri
Washington University Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Joanne Norton    314-362-3613    nortonj@psychiatry.wustl.edu   
Principal Investigator: Nupur Ghoshal, MD, PhD         
United States, New York
Columbia University Not yet recruiting
New York, New York, United States, 10032
Contact: Masood Manoochehri       mm2626@cumc.columbia.edu   
Principal Investigator: Edward Huey, MD         
United States, Pennsylvania
Univerisity of Pennsylvania Recruiting
Phildelphia, Pennsylvania, United States, 19104
Contact: Christina Ray    215-349-5873    rayc@mail.med.upenn.edu   
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    Pheth.Sengdy@vch.ca   
Principal Investigator: Ging-Yeuk Hsiung, MD         
Principal Investigator: Ian Mackenzie, MD         
Sponsors and Collaborators
Mayo Clinic
Investigators
Principal Investigator: Bradley Boeve, MD Mayo Clinic
Principal Investigator: Howard Rosen, MD University of California, San Francisco
  More Information

No publications provided

Responsible Party: Bradley Boeve, Professor of Neurology, Mayo Clinic
ClinicalTrials.gov Identifier: NCT02372773     History of Changes
Other Study ID Numbers: 14-007532, U01AG045390
Study First Received: February 20, 2015
Last Updated: April 30, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Mayo Clinic:
Frontotemporal Dementia
MAPT
PGRN
C9ORF72

Additional relevant MeSH terms:
Aphasia, Primary Progressive
Dementia
Frontotemporal Dementia
Pick Disease of the Brain
Aphasia
Brain Diseases
Central Nervous System Diseases
Communication Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders
Frontotemporal Lobar Degeneration
Language Disorders
Mental Disorders
Metabolic Diseases
Nervous System Diseases
Neurobehavioral Manifestations
Neurodegenerative Diseases
Neurologic Manifestations
Proteostasis Deficiencies
Signs and Symptoms
Speech Disorders
TDP-43 Proteinopathies

ClinicalTrials.gov processed this record on August 26, 2015