Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)
Condition: 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)
MeSH terms: Dementia; Motor Neuron Disease; Amyotrophic Lateral Sclerosis; Aphasia; Frontotemporal Dementia; Aphasia, Primary Progressive; Pick Disease of the Brain; Supranuclear Palsy, Progressive; Frontotemporal Lobar Degeneration; Corticobasal Degeneration; Syndrome; Sclerosis
Study type: Observational

Summary: 
      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.
    

Detailed description: 
      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 (FTLD CRC) to support the development of FTLD
      therapies for new clinical trials. The FTLD CRC will be headquartered at UCSF and will
      partner with six patient advocacy groups to manage the consortium. Patients will be evaluated
      at 13 clinical sites throughout North America and a genetics core will genotype all
      individuals for FTLD associated genes.

      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.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Patients with a diagnosis of a frontotemporal lobar degeneration (FTLD) syndrome, including
        progressive supranuclear palsy (PSP), semantic variant primary progressive aphasia (svPPA),
        and frontotemporal dementia with amyotrophic lateral sclerosis (FTD-ALS). Family members of
        patients with FTLD syndromes.
      
Biospecimen description: 
      Plasma, serum, cell lines and cerebrospinal fluid will be retained by study investigators and
      stored at NIH-funded repositories.
    
Keywords: FTLD, PSP, CBD, PPA, FTD, FTD-ALS, CBS, ALS, svPPA, nfvPPA, oPSP