The Future of the NIA-LOAD Study Continuation, Funding and Reality

NIA-LOAD Study 2002 to Centers involved 2003 to more Centers added

Centers and Families UWStL Mayo IU/NCRAD CU WU 13 other ADCs A remarkable achievement in two years!

NIA-LOAD: Next Step Columbia Indiana Mayo (R&J) Washington Univ UWStL

Specific Aims 1.Complete the current collection of 1,000+ families 2.Identify newly affected family members and unaffected members in current families 3.Develop and implement standardized follow-up procedures 4.Ascertain a series of quantitative traits 5.Complete the recruitment and begin follow-up of controls 6.Apply to the Center for Inherited Disease Research for genotyping in the first 500 families

Aim 1 Complete the current collection of 1,000+ families –recruitment primarily at five centers* –review of all pedigrees, standardized assessment –a regional network to travel for assessment –recruitment of ethnic minorities

Aim 2 Identify newly affected members and evaluate appropriate unaffected in participating families –expand all pedigrees* –examine eligible family members not previously studied –re-contact family members that were unavailable or postponed

Aim 3 Develop and implement standardized follow- up –NIA-LOAD Study quarterly newsletter for families* –create and validate follow-up data forms –develop a standardized cognitive battery for both “in person” and telephone use –continue “in person” assessments using a regional travel team –develop and implement procedures for autopsy

Aim 4 Improve statistical power for the subsequent genetic linkage analysis by implementing procedures to ascertain a series of quantitative traits: –Age-at-onset –Cognitive performance, particularly memory –Biological markers of disease risk and progression

Aim 5 Complete the recruitment and begin follow- up of controls: –use similar assessments as in families with Alzheimer’s disease –use similar follow-up methods –autopsy

Aim 6 Apply to CIDR for genotyping of first 500 families: –provide all raw genotyping data in a secure, web- based format for perform genetic analyses –solicit proposals to complete basic preliminary linkage analyses which will be posted on web site available to all qualified investigators –provide genotype-phenotype information for qualified investigators

What We Will Have Produced 500 families with familial Alzheimer’s disease –Approximately four individuals per family –Well characterized –Raw genotyping data –Basic linkage results An additional 500 families with LOAD 1,000 controls All data, family structure and genotypes available to qualified investigators

Continued Role of ADC/ADRC Leadership of this research resource –Report directly to NIA and ADC leadership –Original 18 centers will continue to be involved Subcontracts for follow-up Identification of new families Subcontracts for genetic analysis in later years Publications will be required to identify the ALL NIA-LOAD Study investigators This is an ADC/ADRC related program