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ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)
NCT04363684 · Mayo Clinic
In plain English
Click the button to translate this study into plain language — what it is, who qualifies, and what participation looks like.
About this study
The ARTFL LEFFTDS Longitudinal Frontotemporal Dementia (ALLFTD) study aims to evaluate sporadic (s-) and familial (f-) frontotemporal lobar degeneration (FTLD) patients and asymptomatic family members of f-FTLD patients, characterizing the cohorts longitudinally and informing clinical trial design. The study has two arms: a "longitudinal arm" involving a comprehensive assessment of clinical, functional, imaging, and biofluid data collection annually, and a "biofluid-focused arm" involving limited clinical data to accompany biospecimen collection. For more information: https://www.allftd.org/
Eligibility criteria
Longitudinal Arm Inclusion Criteria
Familial FTLD (f-FTLD) participants (either is acceptable):
* members of families in whom at least one member has a known disease-associated mutation in one of the major genes that cause f-FTLD: MAPT, GRN, C9orf72 (or other rare genes)
* an autosomal dominant family history of a FTLD syndrome (without a known gene) verified by medical record review or well-documented family history including family members with a medical history consistent with FTLD or a related disorder.
Sporadic FTLD (s-FTLD) participants:
Sporadic participants should be symptomatic with no known family history nor a genetic mutation indicating f-FTLD. All sporadic participants must have an FTLD syndrome as a referring diagnosis; those determined by ALLFTD clinicians to have non-FTLD diagnoses will be excluded from longitudinal visits, but their baseline visit will be included in comparative datasets. For inclusion in the longitudinal follow-up, participants should meet research criteria for one of the following FTLD syndromes:
* Progressive Supranuclear Palsy (PSP)
* Semantic variant Primary Progressive Aphasia (svPPA)
* Nonfluent variant Primary Progressive Aphasia (nfvPPA)
* Corticobasal Degeneration (CBD)/Corticobasal Syndrome (CBS)
* Behavioral variant Frontotemporal dementia (bvFTD)
* Frontotemporal Dementia with Amyotrophic Lateral Sclerosis (FTD/ALS)
Biofluid-Focused Arm Inclusion Criteria
Participants enrolled in the biofluid arm may be either f-FTLD or s-FTLD. All general inclusion criteria apply. Participants should meet research criteria (as specified above) for any FTLD syndrome or meet familial FTLD inclusion criteria. Because the biofluid arm participants do not undergo the same detailed clinical and functional assessments required for the longitudinal arm, participants may be included regardless of primary language, as long as an appropriately translated consent is available.
Exclusion Criteria:
* Known presence of a structural brain lesion (e.g. tumor, cortical infarct) that could reasonably explain symptoms in a symptomatic participant.
* Known presence of an Alzheimer's disease causing mutation in PSEN1, PSEN2 or APP; or biomarker evidence for Alzheimer's disease as a cause of the clinical syndrome.
* A previous history of Korsakoff encephalopathy, severe alcohol dependence (within 5 years of onset of dementia), frequent alcohol or other substance intoxication, or other neurological disorder.
* Evidence through history or laboratory testing of uncorrected B12 deficiency (B12 \< 95% of local laboratory's normal value), unregulated hypothyroidism (TSH \>150% of normal), HIV positive, renal failure (creatinine \> 2), liver failure (ALT or AST \> two times normal), respiratory failure that requires supplemental oxygen, large confluent white matter lesions, significant systemic medical illnesses such as deteriorating cardiovascular disease.
* Current medication likely to affect CNS functions in the opinion of the site PI.
* In the site investigator's opinion, the participant cannot complete sufficient key study procedures. The participant may be enrolled into the biofluid-focused arm if they can tolerate a blood draw and short clinical exam, but must be able to complete at least 75% of study procedures for enrollment into the longitudinal arm.
Study design
Enrollment target: 2100 participants
Age groups: adult, older_adult
Timeline
Starts: 2020-03-01
Estimated completion: 2026-06-30
Last updated: 2025-07-11
Primary outcomes
- • Change in Brain Volumes (Baseline, 1 Year, 2 Year, 3 Year, 4 Year, 5 Year)
- • Change in NIH Examiner Executive Composite Score (Baseline, 1 Year, 2 Year, 3 Year, 4 Year, 5 Year)
- • Change in Multidomain Impairment Rating (MIR) Scale (Baseline, 1 Year, 2 Year, 3 Year, 4 Year, 5 Year)
Sponsor
Mayo Clinic · other
With: University of California, San Francisco, National Institute on Aging (NIA), National Institute of Neurological Disorders and Stroke (NINDS)
Contacts & investigators
ContactLeah K Forsberg, PhD · contact · forsberg.leah@mayo.edu · 507-293-9577
ContactHilary Heuer, PhD · contact · hilary.heuer@ucsf.edu · 415-476-6743
InvestigatorBradley Boeve, MD · principal_investigator, Mayo Clinic
InvestigatorAdam Boxer, MD, PhD · principal_investigator, University of California, San Francisco
InvestigatorHowie Rosen, MD · principal_investigator, University of California, San Francisco
All locations (27)
University of Alabama BirminghamRecruiting
Birmingham, Alabama, United States
University of California, Los AngelesRecruiting
Los Angeles, California, United States
University of California, San DiegoRecruiting
San Diego, California, United States
University of California San FranciscoRecruiting
San Francisco, California, United States
University of Colorado DenverRecruiting
Denver, Colorado, United States
Mayo Clinic FloridaRecruiting
Jacksonville, Florida, United States
Emory UniversityRecruiting
Atlanta, Georgia, United States
Northwestern UniversityRecruiting
Chicago, Illinois, United States
Indiana UniversityRecruiting
Indianapolis, Indiana, United States
Johns Hopkins UniversityRecruiting
Baltimore, Maryland, United States
NIHRecruiting
Bethesda, Maryland, United States
Massachusetts General HospitalRecruiting
Boston, Massachusetts, United States
University of MichiganRecruiting
Ann Arbor, Michigan, United States
Mayo Clinic RochesterRecruiting
Rochester, Minnesota, United States
Washinton University in St. LouisRecruiting
St Louis, Missouri, United States
Cleveland Clinic Lou Ruvo Center for Brain HealthRecruiting
Las Vegas, Nevada, United States
Mount SinaiNot Yet Recruiting
New York, New York, United States
Columbia UniversityRecruiting
New York, New York, United States
University of North Carolina, Chapel HillRecruiting
Chapel Hill, North Carolina, United States
Case Western Reserve Medical CenterRecruiting
Cleveland, Ohio, United States
University of PennsylvaniaRecruiting
Philadelphia, Pennsylvania, United States
Vanderbilt UniversityRecruiting
Nashville, Tennessee, United States
Nantz National Alzheimer Center HoustonRecruiting
Houston, Texas, United States
UT San Antonio Health Science CenterRecruiting
San Antonio, Texas, United States
University of WashingtonRecruiting
Seattle, Washington, United States
University of British ColumbiaRecruiting
Vancouver, British Columbia, Canada
University of TorontoRecruiting
Toronto, Ontario, Canada