O2‐14‐02: THE CLINICAL SPECTRUM OF FRONTOTEMPORAL LOBAR DEGENERATION IN NORTH AMERICA: BASELINE CHARACTERISTICS OF THE FIRST 912 PARTICIPANTS FROM THE ADVANCING RESEARCH AND TREATMENT IN FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM

ARTFL is a NIH-sponsored rare disease clinical research consortium involving 18 clinical centers that evaluate participants in order to 1) characterize the North American population of FTLD patients and 2) study longitudinal changes in familial FTLD (fFTLD) over one year. Key goals are to build clinical trial cohorts and to develop new clinical trial outcome measures including fluid biomarkers. Participants with FTLD spectrum disorders (bvFTD, svPPA, nfvPPA, FTD-ALS, CBD or PSP) or with strong family histories of FTLD undergo clinical and neuropsychological evaluations and blood draws for genetic and blood biomarker analyses. ARTFL is closely linked to the LEFFTDS project, sharing a common infrastructure and assessments. Asymptomatic fFTLD and a subset of sporadic cases undergo MRI. All ARTFL participants are genotyped for dementia-associated mutations. 912 (455 female (50%); 95% Caucasian) individuals were evaluated through December, 2017. In the 475 participants with sporadic FTLD, the most common diagnoses were bvFTD (30.5%) and PSP (20.8%), followed by svPPA (13%), nfvPPA (11.8%), CBS (9.8%) and sporadic FTD-ALS (3%). 45 (9.5%) individuals were referred to the project with FTLD diagnoses, but were determined by expert evaluation to have a different diagnosis. Of the 437 fFTLD participants, 35.7% were considered symptomatic (CDR>0) at their initial visit; the most prominent clinical phenotype was bvFTD (48.4%). Other diagnoses included FTD-ALS, MCI, and psychiatric disorders. The most common causative mutations identified in fFTLD were in C9ORF72 (including 3 in cases thought to be sporadic), followed by MAPT and GRN. 95 individuals with a strong FTLD family history, but no identifiable causative mutation in the family, have been enrolled to date. Expected differences in clinical and neuropsychological rating scales from the NACC UDS and FTLD modules were observed between diagnostic groups. ARTFL is building a substantial FTLD cohort at 18 North American research centers to support clinical research studies. Clinical, biomarker, genetic, imaging data and biospecimens from ARTFL and LEFFTDS are available to investigators worldwide via direct request and the NACC, LONI and NCRAD.

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