The Future of the NIA-LOAD Study

Continuation, Funding and Reality

NIA-LOAD Study

• 2002 to 2003 - 10 Centers involved • 2003 to 2004 - 8 more Centers added

1000 500 0 year 01 year 02 current goal families with samples families

Centers and Families

WU Mayo IU/NCRAD CU UWStL 13 other ADCs

A remarkable achievement in two years!

BU CU DUKE IU+NCRAD MGH MAYO MtS OU UK UPENN UPITT UTSW WU UWStL NW UAB UCLA USC RUSH

NIA-LOAD: Next Step

NIA Cognitive Assessment Rush University GCC at Columbia

Columbia Indiana Mayo (R&J) Washington Univ UWStL

NIA LOAD Consortium NCRAD Other 13 ADCs & ADRC Cell Bank Advisory Committee

Specific Aims

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6.

Complete the current collection of 1,000+ families Identify newly affected family members and unaffected members in current families Develop and implement standardized follow-up procedures Ascertain a series of quantitative traits Complete the recruitment and begin follow-up of controls 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