Skip to main content

Dominantly Inherited Alzheimer Network (DIAN)

  • Recruiting

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.

18 Years
N/A
Both
Yes

  • Age 18 or older
  • Child of an individual with a known mutation for autosomal dominant Alzheimer's disease
  • Cognitively normal; may allow enrollment of participants with very mild, mild, or moderate cognitive impairment
  • Fluent at the 6th grade leve in a language approved by investigators
  • Has two people who are not siblings who can serve as sources for the study

++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

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.

n/a

Name City State Zip Status Primary Contact
University of Southern California Los Angeles California 90089-0080 Recruiting Lucy Montoya
323-442-2357
lucy.montoya@med.usc.edu
Mayo Clinic Jacksonville Jacksonville Florida 32224 Recruiting Sochenda Chea
904-953-3234
chea.sochenda@mayo.edu
Indiana University-Indiana Alzheimer Disease Center Indianapolis Indiana 46202 Recruiting Madeline Cassidy
317-963-7431
mecassid@indiana.edu
Brigham and Women's Hospital Boston Massachusetts 02115 Recruiting Sehily Jaimes
617-643-5200
sjaimes@partners.org
Washington University School of Medicine St. Louis Missouri 63108 Recruiting Wendy Sigurdson
314-362-2256
sigurdsonw@neuro.wustl.edu
Columbia University New York New York 10032 Recruiting Dolly Reyes-Dumeyer
212-305-5953
dr2290@cumc.columbia.edu
University of Pittsburgh Pittsburgh Pennsylvania 15260 Recruiting Zana Ikonomovic
412-692-2740
ikonomovics@upmc.edu
Butler Hospital Providence Rhode Island 02906 Recruiting Courtney Bodge, PhD
401-455-6403
cbodge@butler.org

Washington University School of Medicine

  • National Institute on Aging (NIA) - NIH

  • Randall J. Bateman, MD - Principal Investigator - Washington University School of Medicine

NCT00869817 (follow link to view full record on ct.gov in new window)

Dominantly Inherited Alzheimer Network (DIAN)
January 2009
June 2019
n/a
400