Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02372773|
Recruitment Status : Completed
First Posted : February 26, 2015
Last Update Posted : August 3, 2020
- Study Details
- Tabular View
- No Results Posted
- How to Read a Study Record
|Condition or disease|
|Familial Frontotemporal Dementia|
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|
|Actual Enrollment :||398 participants|
|Official Title:||Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects|
|Study Start Date :||April 2015|
|Actual Primary Completion Date :||June 30, 2020|
|Actual Study Completion Date :||June 30, 2020|
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.
- 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
- 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
Biospecimen Retention: Samples With DNA
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, Learn About Clinical Studies.
|Ages Eligible for Study:||18 Years to 90 Years (Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- Must be a member of family with a known mutation in one of the three major FTLD related genes: MAPT, PGRN, or C9ORF72.
- At least 18 years of age.
- 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)
- Have a reliable informant who personally speaks with or sees that subject at least weekly.
- Subject is sufficiently fluent in English to complete all measures
- Subject must be willing and able to consent to the protocol and undergo yearly evaluations over 3 years.
- Subject must be willing and able to undergo neuropsychological testing (at least at baseline visit).
- Subject must have no contraindication to MRI imaging.
- Known presence of a structural brain lesion (e.g. tumor, cortical infarct).
- Presence of another neurologic disorder which could impact findings (eg, multiple sclerosis).
- Subject is unwilling to return for follow-up yearly, undergo neuropsychological testing and MR imaging.
- Subject has no reliable informant.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02372773
|United States, California|
|University of California, San Francisco, Memory and Aging Center, Department of Neurology|
|San Francisco, California, United States, 94358|
|United States, Florida|
|Mayo Clinic Florida|
|Jacksonville, Florida, United States, 32224|
|United States, Massachusetts|
|Charlestown, Massachusetts, United States, 02129|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|United States, Missouri|
|Saint Louis, Missouri, United States, 63110|
|United States, New York|
|New York, New York, United States, 10032|
|United States, Pennsylvania|
|Univerisity of Pennsylvania|
|Philadelphia, Pennsylvania, United States, 19104|
|Canada, British Columbia|
|University of British Columbia|
|Vancouver, British Columbia, Canada, V6T 2B5|
|Principal Investigator:||Bradley Boeve, MD||Mayo Clinic|
|Principal Investigator:||Howard Rosen, MD||University of California, San Francisco|
Publications of Results:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||Bradley Boeve, Professor of Neurology, Mayo Clinic|
|Other Study ID Numbers:||
U01AG045390 ( U.S. NIH Grant/Contract )
|First Posted:||February 26, 2015 Key Record Dates|
|Last Update Posted:||August 3, 2020|
|Last Verified:||July 2020|
|Individual Participant Data (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.|
|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|
Pick Disease of the Brain
Frontotemporal Lobar Degeneration
Aphasia, Primary Progressive
Central Nervous System Diseases
Nervous System Diseases