NIA-LOAD GENETICS INITIATIVE: MULTIPLEX FAMILY STUDY

1
NIA-LOAD GENETICS INITIATIVE MULTIPLEX FAMILY
STUDY
2
Current LOAD Study Statistics
3
996 Pedigrees Approved
4
Site Sampled Dead End Families Approved Active Families LOAD Qualifying Families Pedigrees with at least 1 sample
Boston University 7 28 7 14
Columbia 27 70 52 69
Columbia (HISPANIC)   87   87
Duke 1 31 26 30
Mass. General 12 11 5 8
Indiana University 11 59 32 56
Mayo Rochester 26 108 72 78
Mayo Jacksonville combined combined 16 36
Mount Sinai 5 13 8 14
Northwestern 0 5 5 6
Oregon Health Sciences 13 44 13 23
Rush 0 25 16 22
UCLA 2 25 17 21
University of Kentucky 0 32 14 20
University of Pennsylvania 1 25 14 22
University of Pittsburgh 6 15 13 16
UT Southwestern 0 44 39 44
University of Washington 3 93 30 67
Washington University 13 91 38 50
University of Alabama 1 13 9 14
USC 1 10 1 6
Vanderbilt University 0 3 0 2
NCRAD 6 25 0 3
  135 857 427 708
5
Consortium sites
6
LOAD Update Control Stats

• 196 more control samples received
• UK and Rush
• Need MDS
• Researchers very interested in control series
• LOAD study control series plates

7
Samples at NCRAD Progress

• October 2003
• 107 families
• 378 samples
• No data
• October 2004
• 422 families
• 1885 samples
• 1298 samples with MDS
• September 2005
• 519 families
• 2607 samples
• 2489 samples with MDS

• May 2006
• 630 families
• (87 CU Hispanic families)
• 2824 samples
• 2653 samples with MDS
• May 2007
• 708 families
• (87 CU Hispanic families)
• 3174 samples
• 3073 samples with MDS

8
Site Site ID Samples with follow-up (more than 1 visit) Samples with Cognitive Eval Samples with Psychiatric Eval
Boston University 2 1 44 0
Columbia 4 133 174 21
Duke 5 0 68 14
Mass. General 7 16 93 13
Indiana University 8 18 133 16
Mayo Rochester 10R 78 88 57
Mayo Jacksonville 10J 2 37 0
Mount Sinai 11 0 15 0
Northwestern 13 0 6 0
Oregon Health Sciences 14 53 79 0
Rush 15 0 29 0
UCLA 17 0 67 0
University of Kentucky 19 3 15 0
University of Pennsylvania 21 2 58 0
University of Pittsburgh 22 47 64 8
UT Southwestern 25 48 317 66
University of Washington 26 7 59 7
Washington University 27 66 155 5
NCRAD NCR 2 0 0
  Totals 476 1501 207
9
Site Site ID Samples with Autopsy
Boston University 2 0
Columbia 4 29
Duke 5 6
Mass. General 7 0
Indiana University 8 18
Mayo Rochester 10R 37
Mayo Jacksonville 10J 4
Mount Sinai 11 7
Northwestern 13 0
Oregon Health Sciences 14 22
Rush 15 1
UCLA 17 2
University of Kentucky 19 3
University of Pennsylvania 21 4
University of Pittsburgh 22 6
UT Southwestern 25 11
University of Washington 26 33
Washington University 27 45
NCRAD NCR 3
  Totals 231
10
Minimum Data Set (MDS)
11
Minimum Date Set

• Revisions 2006
• Psychiatric date MDS part 2
• Cognitive testing revisions
• Revisions for 2007
• Twins
• Others?

12
TWIN OVERWRITE .  If the subject is a twin, indicate type of twin. 1 Identical 2 Not Identical/Fraternal Unknown Family report of twin type, not laboratory.
13
Future Plans

• RECRUITMENT
• Identify and recruit new families meeting
  NIA-LOAD criteria
• Partner with the Alzheimers Association
• LINKS - UTSW
• Newspaper and radio ads
• Other ideas?
• FOLLOW UP ASSESSMENTS
• Balance identifying new with follow-up of
  enrolled families
• Improve the psychiatric data
• AUTOPSY
• More autopsies needed
• Autopsy data turnaround time of autopsy results
  and entry of data
• Utilize the autopsy funds for removal and
  transportation