Dominantly Inherited Alzheimer Network (DIAN)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2015 by Washington University School of Medicine
National Institute on Aging (NIA)
Information provided by (Responsible Party):
Washington University School of Medicine Identifier:
First received: March 25, 2009
Last updated: August 24, 2015
Last verified: August 2015

March 25, 2009
August 24, 2015
January 2009
June 2019   (final data collection date for primary outcome measure)
  • Positive predictive power of a biomarker or group of biomarkers [ Time Frame: Variable follow-up assessment based on age in relation to age at onset of affected parent. ] [ Designated as safety issue: No ]
  • Biomarkers obtained by blood draw, lumbar puncture, MRI, FDG PET, PET amyloid imaging [ Time Frame: Variable follow-up assessment based on age in relation to age at onset of affected parent ] [ Designated as safety issue: No ]
  • Clinical markers also examined from clinical interview and cognitive testing [ Time Frame: Variable follow-up assessment based on age in relation to age at onset of affected parent ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00869817 on Archive Site
Not Provided
Not Provided
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Dominantly Inherited Alzheimer Network (DIAN)
Dominantly Inherited Alzheimer Network (DIAN)
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.

Dominantly inherited Alzheimer's disease (AD) represents less than 1% of all cases of AD and 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:

  • First, that there is a period of preclinical (presymptomatic) AD in individuals who are destined to develop early-onset dementia (gene carriers) that can be detected by changes in biological fluids and in neuroimaging correlates in comparison with individuals who will not develop early-onset dementia (non-carriers).
  • Second, because all identified causative mutations for AD 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; reduced levels in cerebrospinal fluid [CSF]), followed by evidence for cerebral deposition of Aβ42 (amyloid imaging), followed by cerebral metabolic activity (functional imaging), and finally by regional atrophy (structural imaging).
  • Finally, that the phenotype of symptomatic early-onset familial AD, including its clinical course, is similar to that of late-onset "sporadic" AD.

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

  1. Establish an international, multicenter registry of individuals (mutation carriers and non-carriers; pre-symptomatic and symptomatic) who are biological adult children of a parent with a known causative mutation for AD in the APP, PSEN1, or PSEN2 genes in which the individuals are evaluated in a uniform manner at entry and longitudinally thereafter with standardized instruments.
  2. In pre-symptomatic individuals, compare mutation carriers and non-carriers to determine the order in which changes in clinical, cognitive, neuroimaging, and biomarker indicators of AD occur prior to the occurrence of dementia.
  3. In symptomatic individuals, compare the clinical and neuropathological phenotypes of autosomal dominant AD to those of late-onset "sporadic" AD (using the data sets established by ADNI and by NACC).
  4. Maintain the DIAN Central Archive, an integrated database incorporating all information obtained from individuals in the registry to permit analyses within, between, and among the various data domains and also to disseminate the data to qualified investigators in a user-friendly manner.
  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 is provided as an optional participant benefit and is not part of the DIAN research design.
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
serum, plasma, cerebral spinal fluid
Non-Probability Sample
Mutation carriers and non-carriers from families with a mutation (which is different from the genetic risk factor Apo-E4) known to cause Alzheimer's disease.
Alzheimer's Disease
Not Provided
  • 1
    Mutation Positive
  • 2
    Mutation Negative

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
June 2019
June 2019   (final data collection date for primary outcome measure)

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
18 Years and older
Contact: DIAN Global Coordinator 314-286-2683
Contact: Angela Oliver, RN BSN MS
United States,   Australia,   Germany,   United Kingdom
IA0147, U19AG032438
Washington University School of Medicine
Washington University School of Medicine
National Institute on Aging (NIA)
Principal Investigator: Randall J. Bateman, MD Washington University School of Medicine
Washington University School of Medicine
August 2015

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP