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NIA LOAD Genetics Initiative

Stay updated with NCRAD's recruitment efforts for Alzheimer's families. Researchers requesting samples, site notes, and upcoming trips.

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NIA LOAD Genetics Initiative

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  1. NIA LOAD Genetics Initiative Progress Report 2006: NCRAD and LOAD Update Michele Goodman, CCRP National Cell Repository for Alzheimer’s Disease

  2. NCRAD Update • Over 800 families currently enrolled • Continue to recruit new families • 2+ living with early or late onset AD, related dementia • Qualifying families should contact NCRAD • 1-800-526-2839 or www.ncrad.org • Good option for families who fail to meet LOAD criteria (not sibs, no 3rd person over age 60)

  3. NCRAD Update: Recruitment • Family referral from NCRAD to Sites: • 2003: 131 Families • 2004: 112 Families • 2005: 28 Families • 2006 so far: 11 Families • Common recruitment sources • Internet, Alzheimer’s Association, clinicaltrials.gov, newspaper • NCRAD/Columbia plan to attend several small regional conferences

  4. NCRAD Update: Recruitment • Call and e-mail volume at NCRAD • 2003: 100+ calls, 40-50 e-mails per day • ~10% from qualifying families • 2006: 1-10 calls, 1-5 e-mails per day • Much higher proportion of qualifying families • Sites recruiting new families • Sample collection numbers mirror recruitment trend

  5. Samples Sent to NCRAD

  6. NCRAD Update: Sample Requests • Researchers now requesting samples from NCRAD and LOAD families • NCRAD pedigrees currently online at www.ncrad.org • LOAD pedigrees will be online soon • Will highlight resources at 10th Annual International Conference on Alzheimer’s Disease and Related Disorders in July • NCRAD booth in exhibit hall

  7. NCRAD Update: Sample Requests • 1,985 LOAD samples distributed to researchers • 1,700 to outside investigators • 285 to LOAD investigators • 1,973 NCRAD samples distributed during same time

  8. NCRAD Update: Sample Requests • LOAD sample requests will increase • Standardized phenotypic data • Longitudinal data sets • Controls with MDS • NCRAD samples still ordered for autopsy confirmed AD • 360+ sampled CONF AD in NCRAD • 80 sampled CONF AD in LOAD • Only 10 families with 2 or more autopsies

  9. LOAD Update: Site Notes • Columbia • February trip to rural Kentucky • 6 individuals evaluated + 2.5 hour drive + only one flight in/out of Lexington = quite a trip! • March trip to D.C. area for 8 family members, including FTD patient • March trip to Alabama • 30 individuals evaluated • Interesting conversation between family members

  10. LOAD Update: Site Notes • Mayo Jacksonville • Will see large family in Alabama with many affected, interested in autopsy • Mayo Rochester • Recent trip to Sarasota, FL • Met with 7 individuals, 5 enrolled with more to participate later • Marshalltown, IA trip on 4/17/06 • Sampled and evaluated 20 individuals in a family with 11 sibs • Just enrolled 8th living of 17 sibs • 3 new families scheduled in May

  11. LOAD Update: Site Notes • Indiana University • Recently evaluated 9 sibs in Dixon, IL (boyhood home of Ronald Reagan) • Completed several local visits, and hope to plan more Midwest trips • Family filmed for local TV news special • New brochure for control recruitment

  12. LOAD Update: Site Notes • University of Texas Southwestern (UTSW) • Enrolled/enrolling 11 families since April 2005 • Traveled to various cities in Texas, Oklahoma, Louisiana • Will see families near Tulsa, Houston/Austin • Study visits educate and raise awareness in families • Offspring traveling to UTSW for follow-up visits

  13. LOAD Update: Site Notes • University of Washington • Great Falls, Montana and surrounding area • 9 evaluated in single family • Salem, Oregon • 3 individuals from 2 families • Planned trip to central Washington • Another way to evaluate a family member…have them take your coat

  14. LOAD Update: Site Notes • Washington University • Trips during past 8 months for 8 families and 24+ individuals • Southern/Northern California, Idaho, Northern Kentucky, Kansas, Louisiana, Texas • Upcoming trips to Texas, Florida, Kansas, Utah, New Mexico • Level of family commitment and contribution to Wash U. ADRC

  15. LOAD Update • The Good News • Data calls going well, less errors to report • Recently ascertained several large families with a few more in progress • February 2006 data call produced 20+ additional qualifying families Excellent Work!! And we also met our goal for CIDR…

  16. CIDR • Submitted 2,514 samples in December: • 2,402 LOAD and Control samples • 2,107 LOAD family samples • 295 Control samples • 112 investigator duplicates • Entire pedigree file recoded • 362 LOAD families sent to CIDR • 321 qualifying families • 41 nearly qualifying families

  17. CIDR: Error Report • 54 Reported Errors (2%) • And 21 resulted from a CIDR plate automation problem, so really only 33 (1%) • 3 Unique Situations (not actual errors) • 1 verified Klinefelter syndrome (XXY) • Identical twin sisters married brothers in AD family • 30 errors left to investigate

  18. CIDR: Error Report • 8 Performed poorly in SNP Assay • No particular reason cited by CIDR • 8 Data Coding Errors • Incorrect gender coding or wrong parents • 14 NCRAD/Lab Errors • DNA errors should be independent of cell lines

  19. CIDR: Error Report • Next steps: • Lab sends new aliquot of DNA for 22 problem samples • NCRAD submits new file to CIDR with corrected pedigree data • NCRAD will continue 9 marker screen on new samples and DNA from cell lines • Clean, verified pedigree structure necessary for future rounds of genotyping

  20. Pedigree Review • Every 6 months following data call and data cleaning • Each site asked to provide updated list of “completed” families • Both qualifying and dead end families • NCRAD will plot completed families for each site from MDS • Fax or mail to site for verification

  21. Pedigree Review • After site verifies family structure, samples will be screened in IU lab • If errors reported: • NCRAD verifies that sample IDs correct • Reference data set and initial pedigree submitted by site • Contact site to validate data • Investigate sources of lab error

  22. Pedigree Review • Next pedigree review July 2006 • Send list of completed families with data or dataclean files • NCRAD will not release samples to investigators until pedigree review process is complete • 362 CIDR families and 295 Controls currently available to researchers

  23. NCRAD Lab • 99% cell line success rate across all AD studies • Some failed cells sent again and growing well • Creating DNA back-up • 100 µl stored in separate facility • Requests additional information for frozen brain specimens • Amount of tissue indicated on sample form

  24. Summary • Need to increase autopsy #’s in LOAD • Pedigree review important to increase available samples • Anticipate new investigators after July conference and CIDR analysis • Value of genotyping • Hope to gain more qualifying families with follow-up

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