Alzheimer's Disease Education and Referral Center

Dominantly Inherited Alzheimer Network (DIAN)

Dominantly Inherited Alzheimer Network (DIAN)

Overall Status: 
Recruiting
Brief Description: 

The purpose of this study is to identify potential biomarkers that may predict the development of Alzheimer's disease in people who carry an Alzheimer's mutation.

Patient Qualifications: 
Min AgeMax AgeGenderHealthy Volunteers
18 Years
N/A
Both
Yes
Inclusion Criteria: 

  • Age 18 or older
  • Child of an individual with a known mutation in a pedigree with autosomal dominant Alzheimer's disease
  • Cognitively normal or, if demented, does not require nursing home level care
  • Fluent in English or Spanish at the 6th grade level
  • Has someone who is not a child of the affected parent who can serve as an informant for the study

Exclusion Criteria: 

  • Under age 18
  • Medical or psychiatric illness that would interfere in completing initial and follow-up visits
  • Requires nursing home level care
  • Has no one who can serve as a study informant

Detailed Description: 

Dominantly inherited Alzheimer's disease represents less than 1% of all cases of Alzheimer's. It is an important model for study because the responsible mutations have known biochemical consequences that are believed to underlie the pathological basis of the disorder.

Three major hypotheses will be tested:

  • There is a period of preclinical (presymptomatic) Alzheimer's disease in individuals who are destined to develop early-onset dementia (gene carriers) that can be detected by changes in biological fluids and in neuroimaging results compared with individuals who will not develop early-onset dementia (noncarriers).
  • Because all identified causative mutations for Alzheimer's disease affect the normal processing of amyloid precursor protein (APP) and increase brain levels of amyloid-beta 42 (Aβ42), the sequence of preclinical changes initially will involve Aβ42 production and clearance and reduced levels in cerebrospinal fluid, followed by evidence for cerebral deposition of Aβ42 (amyloid imaging), followed by cerebral metabolic activity (functional imaging), and finally by regional atrophy (structural imaging).
  • The phenotype of symptomatic early-onset familial Alzheimer's, including its clinical course, is similar to that of late-onset "sporadic" Alzheimer's.

The following specific aims will be used to test these hypotheses:

1. Establish an international, multicenter registry of individuals (mutation carriers and noncarriers; presymptomatic and symptomatic) who are biological adult children of a parent with a known causative mutation for Alzheimer's disease in the APP, PSEN1, or PSEN2 genes.
2. In presymptomatic individuals, compare mutation carriers and noncarriers to determine the order in which changes in clinical, cognitive, neuroimaging, and biomarker indicators of Alzheimer's disease occur prior to dementia.
3. In symptomatic individuals, compare the clinical and neuropathological phenotypes of autosomal dominant Alzheimer's to those of late-onset "sporadic" Alzheimer's.
4. Maintain the DIAN Central Archive, an integrated database incorporating all information obtained from individuals in the registry, to permit analyses among the various data domains and to disseminate the data to qualified investigators.
5. All DIAN participants who wish to know their mutation status will have the costs of genetic counseling and clinical mutation testing paid for by the grant. The clinical genetic counseling and testing are provided as an optional participant benefit and are not part of the DIAN research design.

Locations: 
Map Marker CityStateZip CodeStatusPrimary Contact

Geolocation is 34.070264, -118.4440562

University of California, Los Angeles
Los Angeles
California
90095
Recruiting
David Wharton
805-509-1842
dwharton@mednet.ucla.edu

Geolocation is 39.7794767, -86.1700894

Indiana University-Indiana Alzheimer Disease Center
Indianapolis
Indiana
46202
Recruiting
Francine Epperson
317-274-1590
freppers@iupui.edu

Geolocation is 42.339904, -71.0898892

Brigham and Women's Hospital
Boston
Massachusetts
02115
Recruiting
Dana Sapir
617-525-9554
Email: dsapir@partners.org

Geolocation is 38.647459, -90.25731

Washington University School of Medicine
St. Louis
Missouri
63108
Recruiting
Wendy Sigurdson
314-362-2256
sigurdsonw@neuro.wustl.edu

Geolocation is 40.8409822, -73.9447994

Columbia University
New York
New York
10032
Recruiting
Dolly Reyes-Dumeyer
212-305-5953
Email: dr2290@columbia.edu

Geolocation is 40.4424402, -79.9531948

University of Pittsburgh
Pittsburgh
Pennsylvania
15260
Recruiting
Eric McDade
412-692-2732
mcdadee@upmc.edu

Geolocation is 41.8396817, -71.3883751

Butler Hospitall
Providence
Rhode Island
02906
Recruiting
Michelle Gardner
401-455-6403
MLGardner@butler.org

Geolocation is 30.2606613, -81.460856

Mayo Clinic
Jacksonville
Florida
32224
Recruiting
Dana Kistler
904-953-9680
Kistler.Dana@mayo.edu
Lead Sponsor: 
Agency
Washington University School of Medicine
Collaborator Sponsor: 
Agency
National Institute on Aging (NIA)
Facility Investigators: 
NameRoleAffiliation
John C. Morris, MD
Principal Investigator
Washington University School of Medicine
Study Contact: 
NamePhoneEmail
Angela Oliver
314-286-2683
Locations
 
 
ClinicalTrials.gov ID 
NCT00869817 (follow link to view full record on ct.gov in new window)
Official Title: 
Dominantly Inherited Alzheimer Network (DIAN)
Study Start Date: 
January 2009
Study End Date: 
June 2019
Disease Stage: 
Pre-clinical
Early
Middle
Enrollment: 
400