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• W2980698963 abstract "Two NIH-funded research consortia have been designed to identify clinical trial cohorts, investigate disease progression, and develop new clinical trial outcome measures in frontotemporal lobar degeneration (FTLD). The Advancement of Research and Treatment in FTLD (ARTFL) protocol involves 18 clinical centers that evaluate participants with sporadic and familial FTLD. The 8-site Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS) protocol co-enrolls ARTFL participants from kindreds with mutations in microtubule associated protein tau (MAPT), progranulin (GRN), or chromosome 9 open reading frame 72 (C9orf72). An integrated infrastructure was created for the two consortia with common procedures. Participants with FTLD spectrum disorders (bvFTD, svPPA, nfvPPA, FTD-ALS, CBS or PSP) or with strong family histories of FTLD undergo clinical and neuropsychological evaluations and blood draws for genetic and biomarker analyses; lumbar puncture for CSF collection is optional. Familial participants return for yearly follow-up visits (ARTFL: 1 follow-up visit; LEFFTDS 3 follow-up visits). All participants are genotyped for dementia-associated mutations. To date, 1244 participants enrolled in ARTFL and LEFFTDS have undergone baseline assessment: 616 (49.5%) female, 1140 (91.6%) Caucasian, mean age 56 (range 18-89) years, and mean education 16 (range 11-22) years. The most common diagnoses in the sporadic cohort are bvFTD (30%) and PSP (21%), followed by CBS (13%), svPPA (12%), nfvPPA (10%), and FTD-ALS (4%). Of 586 familial participants, 25% have a MAPT mutation in the kindred, 20% have a GRN mutation in the kindred, 34% have the C9orf72 expansion in the kindred, and 4 individuals have a double familial mutation in C9orf72 and GRN. 16% of familial participants lacked known mutations, and a small number had other FTD-associated mutations. Annual follow-up evaluations for participants in the LEFFTDS study have been completed in 278 (71%) for Visit 2, 162 (41%) for Visit 3, and 35 (9%) for Visit 4. Blood samples are currently available from 1023 individuals and MRIs from 612 participants. These integrated consortia are actively evaluating participants across North America to characterize FTLD and prepare sites and investigators for FTLD clinical trials. Clinical, genetic, and imaging data and biospecimens are available to investigators worldwide." @default.
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• W2980698963 date "2019-07-01" @default.
• W2980698963 modified "2023-09-27" @default.
• W2980698963 title "O4-03-01: FRONTOTEMPORAL LOBAR DEGENERATION RESEARCH IN NORTH AMERICA: PROGRESS IN THE ARTFL/LEFFTDS CONSORTIA" @default.
• W2980698963 doi "https://doi.org/10.1016/j.jalz.2019.06.4752" @default.
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