Study Purpose:
Frontotemporal Lobar Degeneration (FTLD) is the neuropathological term for a collection of rare neurodegenerative diseases that correspond to four main overlapping clinical syndromes: frontotemporal dementia (FTD), primary progressive aphasia (PPA), corticobasal degeneration syndrome (CBS) and progressive supranuclear palsy syndrome (PSPS). The goal of this study is to build a FTLD clinical research consortium to support the development of FTLD therapies for new clinical trials. The consortium, referred to as Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL), will be headquartered at UCSF and will partner with six patient advocacy groups to manage the consortium. Participants will be evaluated at 14 clinical sites throughout North America and a genetics core will genotype all individuals for FTLD associated genes.Study Status:
Not recruiting
Disease:
FTLD , Progressive Supranuclear Palsy (PSP) , Frontotemporal Dementia (FTD) , Corticobasal Degeneration (CBD) , PPA Syndrome , Behavioral Variant Frontotemporal Dementia (bvFTD) , Semantic Variant Primary Progressive Aphasia (svPPA) , Nonfluent Variant Primary Progressive Aphasia (nfvPPA) , FTD With Amyotrophic Lateral Sclerosis (FTD/ALS) , Amyotrophic Lateral Sclerosis (ALS) , Oligosymptomatic PSP (oPSP) , Corticobasal Syndrome (CBS)
Study Type:
Observational
Type of Intervention:
N/A
Intervention Name:
N/A
Placebo:
N/A
Phase:
N/A
Study Chair(s)/Principal Investigator(s):
Adam L Boxer, MD, PhD, Study PI
Clinicaltrials.gov ID:
Neals Affiliated?
No
Coordinating Center Contact Information
University of California, San Francisco
San Francisco, California, 94158 United States
Full Study Summary:
The study will be divided into 2 projects. The first project will be Preparing for Sporadic FTLD Clinical Trials and the second project will be a Longitudinal Assessment of Familial FTLD. Self-registration for an online registry will be available for patients and families with any FTLD syndrome. Eligible participants for research Projects 1 and 2 FTLD will be invited to a CRC site for clinical evaluations. All enrolled participants in both research projects will have a site visit consisting of a neurological exam, medical and family history, cognitive testing, and a blood draw.
Participants in Project 1 who have a diagnosis of Progressive Supranuclear Palsy Syndrome will have two additional assessments. A lumbar puncture (LP) will be performed for CSF collection, and an MRI scan of the brain will be done.
Participants in Project 2: Longitudinal Assessment of familial FTLD will return for a follow-up visit in 12 months; procedures at the follow-up visit will be identical to those at baseline. Additionally, asymptomatic participants will undergo MRI scans at both visits.
Study Sponsor:
University of California, San Francisco
Estimated Enrollment:
1489
Estimated Study Start Date:
09 / 01 / 2014
Estimated Study Completion Date:
09 / 01 / 2020
Posting Last Modified Date:
05 / 21 / 2021
Date Study Added to neals.org:
02 / 19 / 2015
Minimum Age:
18 Years
Maximum Age:
85 Years
1. Inclusion Criteria:Must meet one of the following research diagnostic criteria for a Frontotemporal lobar degeneration (FTLD) syndrome: behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), semantic variant primary progressive aphasia (svPPA), nonfluent variant primary progressive aphasia (nfvPPA), frontotemporal dementia with amyotrophic lateral sclerosis (FTD/ALS), amyotrophic lateral sclerosis alone, corticobasal syndrome (CBS), progressive supranuclear palsy (PSP) or oligosymptomatic PSP (oPSP), or have a strong family history of FTLD syndromes.2. Between 18 and 85 (inclusive) years of age.
3. Able to walk (with assistance) at the time of enrollment.
4. Have a reliable study partner who can provide an independent evaluation of functioning.
5. Speak English or Spanish
6. Have Mini Mental State Exam (MMSE) scores between 15 - 30 (inclusive).
Exclusion Criteria:
1. Known presence of a structural brain lesion (e.g. tumor,cortical infarct) that could reasonably explain symptoms in a symptomatic participant without a known f-FTLD causing mutation.
2. Known presence of an Alzheimer's disease causing mutation in PSEN1, PSEN2 or APP; or neuropathological evidence for Alzheimer's disease as a cause of syndrome (from brain biopsy).
3. 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 (such as multiple sclerosis)
4. Evidence through history or laboratory testing of B12 deficiency (B12 < 95% of local laboratory's normal value), hypothyroidism (TSH >150% of normal), HIV positive,renal failure (creatinine > 2), liver failure (ALT or AST > two times normal), respiratory failure (requiring oxygen), extra-axial brain tumor (with visible compression of the brain parenchyma), large cerebral infarct that could account for clinical syndrome, large confluent white matter lesions (grades 3 or 4, [107] significant systemic medical illnesses such as deteriorating cardiovascular disease;
5. Current medication likely to affect CNS functions in the opinion of the site PI: long acting benzodiazepines such as diazepam (short-acting benzodiazepines are OK), non-SSRI antidepressants (SSRIs or trazodone are OK), no lithium, typical neuroleptics as listed in the Manual of Procedures, narcotics (codeine is OK, but hold 24 hours before neuropsychological testing), anticonvulsants (outside of therapeutic ranges), antihistamines (if taking greater than three times per week; hold 24 hours before neuropsychological testing).
6. In the site investigator's opinion, the participant cannot complete sufficient key study procedures, or equivalent assessment of impairment level.
7. For groups where MRI scans are planned procedures, any contraindication for MRI scanning, such as pacemaker or other implanted metals.
University of Alabama
Birmingham, Alabama
35294
United States
University of California, Los Angeles
Los Angeles, California
90095
United States
University of California, San Diego
San Diego, California
92037
United States
University of California, San Francisco
San Francisco, California
94158
United States
Mayo Clinic - Jacksonville
Jacksonville, Florida
32224
United States
Northwestern University
Chicago, Illinois
60611
United States
Johns Hopkins University
Baltimore, Maryland
21287
United States
Harvard University Massachusetts General Hospital
Charlestown, Massachusetts
02129
United States
Mayo Clinic - Rochester
Rochester, Minnesota
55905
United States
Washington University
Saint Louis, Missouri
63110
United States
Columbia University
New York, New York
10032
United States
University of North Carolina
Chapel Hill, North Carolina
27599
United States
Case Western Reserve University Hospitals Cleveland Medical Center
Cleveland, Ohio
44106
United States
University of Pennsylvania
Philadelphia, Pennsylvania
19104-4283
United States
University of Washington Harborview Medical Center
Seattle, Washington
98104
United States
University of British Columbia
Vancouver, British Columbia
V6T 2B5
Canada
University of Toronto
Toronto, Ontario
M5T 2S8
Canada