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RecruitingNCT00869817DIANUpdated Oct 5, 2026

Dominantly Inherited Alzheimer Network (DIAN)

An observational study in Alzheimer's Disease, sponsored by Washington University School of Medicine. Recruiting at 26 sites in 13 countries. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-05.

Sponsored by Washington University School of Medicine · Observational

Updated Oct 5, 2026Primary completion movedStudy completion movedGo to Updates ↓
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
700
Ages
18 Years and older
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-12

Among 25 studies in Alzheimer Disease by Washington University School of Medicine — 8 open to participants now, 15 under way, 5 of them phase 3. Alzheimer Disease · Washington University School of Medicine.

Planned enrollment
3rd of 11
700 · median 96
Started
2009
the only one that year
Observational
10 of 25
5 open now
Primary completion
2031-09
later than 12 of 14 live
Registered
1st of 25
by date

Among the 25 studies in Alzheimer Disease by Washington University School of Medicine, this one is the 3rd largest by planned enrollment of the 11 observational ones, is the only one that started in 2009, is one of 10 observational ones, reaches primary completion later than 12 of the 14 other live ones, and was the 1st registered.

By phase

25 studies; the count open now beside each. This study's row is marked.

Observationalthis study10 · 5 open
Phase 2/36 · 2 open
No phase5 · 1 open
Other kind1 · 0 open
Phase 11 · 0 open
Phase 21 · 0 open
Phase 31 · 0 open

By the year they started

First in 2009; this study’s year is marked. 1 started in 2009.

Size and results

Median enrollment 232 across the 14 interventional studies, 96 across the 11 observational. Of the 10 that completed or were terminated, 4 (40%) have results posted.

Watch this landscapeDownload CSVWith an account: a weekly mail of what changed among 25 studies in Alzheimer Disease by Washington University School of Medicine, or all of them as a file.
02

Study summary

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.

Read the detailed description

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. Maintain the established international DIAN registry of individuals (MCs and non-carriers (NC), symptomatic and asymptomatic) who are biological adult children of an affected parent with an APP, PSEN1, or PSEN2 mutation causing AD and assess participants every 2 years with the uniform DIAN protocol.
  2. Recruit to the registry 50 new asymptomatic participants, both MCs and NCs, in Year 1 of the next budget period to maintain the total DIAN cohort at \~250 individuals. These new participants will include those who are more than 15 years younger than the estimated age of symptomatic onset (EAO) to explore the earliest observable biomarker changes of preclinical AD.
  3. Maintain the integrated DIAN database and biospecimen repository to disseminate data and tissue to qualified investigators (within and outside of DIAN) in a user-friendly manner and to permit analyses within, between, and among the various data domains that will include:

    1. In asymptomatic MCs (using NCs as controls), determine the temporal ordering and rate of intraindividual change in clinical, cognitive, imaging, and fluid biomarkers of AD prior to EAO
    2. In symptomatic MCs, compare the clinical and neuropathological phenotypes of ADAD to those of LOAD, using datasets such as ADNI.
  4. Utilize the DIAN cohort and its database and biospecimen repository to support new scientific studies, including use of exome chip technology to examine potential modifiers of age at symptomatic onset. Pursue other new scientific initiatives that are funded independently of the DIAN grant but are conducted within the DIAN infrastructure at no cost to DIAN including: Dermal fibroblasts and induced pluripotent stem cells (iPSCs), examine biomarker surrogates for neurogeneration in CSF including Visinin-like protein-1 (VILIP-1), Tau seeding assay, Stable Isotope Leucine Kinetics (SILK) in DIAN participants, determine the exact Abeta species that underlie AD pathology using Mass spectrometry, exome sequencing on all DIAN participants to search for both positive and negative modifiers of EYO, and amyloid imaging crossover to [18F]florbetapir.
  5. Provide genetic counseling to any and all DIAN participants who wish to learn their mutation status and, for those who decide to learn their status after counseling, provide genetic testing by Clinical Laboratory Improvement Amendments (CLIA)-approved laboratories (i.e., outside of DIAN).
03

Conditions studied

  • Alzheimer's Disease

Browse trials for

Keywords

  • Alzheimer's disease
  • antecedent biomarkers
  • Amyloid Precursor Protein (APP) mutation
  • presenilin I (PS1) mutation
  • presenilin 2 (PS2) mutation
  • Autosomal Dominant Alzheimer's Disease
04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Written obtained from participant and collateral source prior to any study-related procedures.
  • Aged 18 (inclusive) or older and the child of an affected individual (clinically or by testing) in a pedigree with a known mutation for ADAD.
  • Cognitively normal to very mild or mild cognitive impairment (CDR score range 0-1.0). Primary enrollment will focus on the recruitment of asymptomatic adult children who are more than 15 years younger than the estimated age of symptom onset. Enrollment of new participants with moderate cognitive impairment is allowed with the prior approval of the DIAN Coordinating Center.
  • Has two persons who are not their full-blooded siblings who can serve as collateral sources for the study.
  • Fluent in a language approved by the DIAN Coordinating Center at about the 6th grade level (international equivalent) or above.

Exclusion criteria

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
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
700 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 1

    Mutation Positive

  • 2

    Mutation Negative

06

What researchers measure

Primary outcomes

  1. 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.

  2. 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

  3. 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

07

Study locations

21 of 26 sites recruiting
  • Mayo Clinic Jacksonville
    Jacksonville, Florida 32224, United States
    Recruiting
  • Indiana University-Indiana Alzheimer Disease Center
    Indianapolis, Indiana 46202, United States
    Recruiting
    • Jill Buck, RN · Contactjilmbuck@iu.edu · 317-963-1847
    • Martin Farlow, MD · Principal investigator
  • Brigham and Women's Hospital
    Boston, Massachusetts 02115, United States
    Recruiting
  • Washington University in St. Louis School of Medicine
    St Louis, Missouri 63108, United States
    Recruiting
  • Columbia University
    New York, New York 10032, United States
    Suspended

    Not enrolling at this site — choose another above.

  • University of Pittsburgh
    Pittsburgh, Pennsylvania 15260, United States
    Recruiting
    • Zana Ikonomovic, MD · Contactikonomovics@upmc.edu · 412-692-2740
    • Sarah Berman, MD, PhD · Principal investigator
  • Butler Hospital
    Providence, Rhode Island 02906, United States
    Recruiting
    • Courtney Bodge, PhD · Contactcbodge@butler.org · (401) 455-6403
    • Edward Huey, MD · Principal investigator
  • University of Washington
    Seattle, Washington 98195, United States
    Recruiting
  • Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia (FLENI)
    Salta, Salta Province, Argentina
    Recruiting
  • Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia" (FLENI) Instituto de Investigaciones Neurológicas Raúl Correa
    Buenos Aires, Argentina
    Recruiting
  • Neuroscience Research Australia
    Sydney, New South Wales 2031, Australia
    Recruiting
  • Mental Health Research Institute, University of Melbourne
    Melbourne, Victoria 3130, Australia
    Suspended

    Not enrolling at this site — choose another above.

  • Sir James McCusker Alzheimer's Disease Research Unit, Edith Cowan University
    Perth, Western Australia 6009, Australia
    Recruiting
  • Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo
    São Paulo, São Paulo 05403-900, Brazil
    Recruiting
  • McGill University Research Centre for Studies in Aging
    Verdun, Quebec H4H 1R3, Canada
    Not yet recruiting
  • Grupo Neurociencias de Antioquia
    Medellín, Colombia, Colombia
    Recruiting
    • Yudy Milena León Varela · Contactyudy.leon@gna.org.co
    • David Aguillon, MD · Principal investigator
  • German Center for Neurodegenerative Diseases (DZNE) Munich, and University Hospital Ludwig-Maximilians-Universitat (LMU) Munich
    Munich, D-81377, Germany
    Recruiting
    • Ilona Ruge · ContactIlona.Ruge@dzne.de
    • Johannes Levin, MD, PhD · Principal investigator
  • German Center for Neurodegenerative Diseases (DZNE) Tübingen and Hertie-Institute for Clinical Brain Research, University of Tübingen
    Tübingen, D-72076, Germany
    Recruiting
  • Niigata University
    Niigata, Japan
    Recruiting
  • Osaka City University
    Osaka, Japan
    Suspended

    Not enrolling at this site — choose another above.

  • Tokyo University
    Tokyo, Japan
    Recruiting
  • Instituto Nacional de Neurología y Neurocirugía "Manuel Velasco Suarez"
    Mexico City, Mexico City 14269, Mexico
    Recruiting
    • Gabriela Rojas de la Torre, MS, MA · Contactgabriella.delatorre.1066@gmail.com
    • Ana Luisa Sosa Ortiz, PHD · Principal investigator
    • Erika Mariana Longoria Ibarrola, MD · Sub investigator
  • Amsterdam UMC
    Amsterdam, 1081HV, Netherlands
    Recruiting
  • Asan Medical Center
    Seoul, Songpa-Gu 05505, South Korea
    Recruiting
    • Jee Hoon Roh, MD, PhD · Contactroh@amc.seoul.kr · 82-2-3010-3443
    • Jae Hong Lee, MD, PhD · Principal investigator
  • Hospital Clinic Barcelona
    Barcelona, Catalonia 08036, Spain
    Suspended

    Not enrolling at this site — choose another above.

  • Institute of Neurology, Queen Square
    London, WC1N 3BG, United Kingdom
    Recruiting
    • Helen Rice, RN · Contacthelen.rice2@nhs.net · 07741 671 840
    • Nick Fox, MD · Principal investigator
08

References and documents

Publications

  • Mintun MA, Larossa GN, Sheline YI, Dence CS, Lee SY, Mach RH, Klunk WE, Mathis CA, DeKosky ST, Morris JC. [11C]PIB in a nondemented population: potential antecedent marker of Alzheimer disease. Neurology. 2006 Aug 8;67(3):446-52. doi: 10.1212/01.wnl.0000228230.26044.a4. PubMed 16894106 ↗
  • Fagan AM, Roe CM, Xiong C, Mintun MA, Morris JC, Holtzman DM. Cerebrospinal fluid tau/beta-amyloid(42) ratio as a prediction of cognitive decline in nondemented older adults. Arch Neurol. 2007 Mar;64(3):343-9. doi: 10.1001/archneur.64.3.noc60123. Epub 2007 Jan 8. PubMed 17210801 ↗
  • Godbolt AK, Cipolotti L, Anderson VM, Archer H, Janssen JC, Price S, Rossor MN, Fox NC. A decade of pre-diagnostic assessment in a case of familial Alzheimer's disease: tracking progression from asymptomatic to MCI and dementia. Neurocase. 2005 Feb;11(1):56-64. doi: 10.1080/13554790490896866. PubMed 15804925 ↗
  • Morris JC, McKeel DW Jr, Storandt M, Rubin EH, Price JL, Grant EA, Ball MJ, Berg L. Very mild Alzheimer's disease: informant-based clinical, psychometric, and pathologic distinction from normal aging. Neurology. 1991 Apr;41(4):469-78. doi: 10.1212/wnl.41.4.469. PubMed 2011242 ↗
  • Galvin JE, Powlishta KK, Wilkins K, McKeel DW Jr, Xiong C, Grant E, Storandt M, Morris JC. Predictors of preclinical Alzheimer disease and dementia: a clinicopathologic study. Arch Neurol. 2005 May;62(5):758-65. doi: 10.1001/archneur.62.5.758. PubMed 15883263 ↗
  • Wagemann O, Li Y, Hassenstab J, Aschenbrenner AJ, McKay NS, Gordon BA, Benzinger TLS, Xiong C, Cruchaga C, Renton AE, Perrin RJ, Berman SB, Chhatwal JP, Farlow MR, Day GS, Ikeuchi T, Jucker M, Lopera F, Mori H, Noble JM, Sanchez-Valle R, Schofield PR, Morris JC, Daniels A, Levin J, Bateman RJ, McDade E, Llibre-Guerra JJ; Dominantly Inherited Alzheimer Network. Investigation of sex differences in mutation carriers of the Dominantly Inherited Alzheimer Network. Alzheimers Dement. 2024 Jan;20(1):47-62. doi: 10.1002/alz.13460. Epub 2023 Sep 23. PubMed 37740921 ↗
  • Prescott JW, Doraiswamy PM, Gamberger D, Benzinger T, Petrella JR; Dominantly Inherited Alzheimer Network. Diffusion Tensor MRI Structural Connectivity and PET Amyloid Burden in Preclinical Autosomal Dominant Alzheimer Disease: The DIAN Cohort. Radiology. 2022 Jan;302(1):143-150. doi: 10.1148/radiol.2021210383. Epub 2021 Oct 12. PubMed 34636637 ↗
  • Gordon BA, Blazey TM, Su Y, Hari-Raj A, Dincer A, Flores S, Christensen J, McDade E, Wang G, Xiong C, Cairns NJ, Hassenstab J, Marcus DS, Fagan AM, Jack CR Jr, Hornbeck RC, Paumier KL, Ances BM, Berman SB, Brickman AM, Cash DM, Chhatwal JP, Correia S, Forster S, Fox NC, Graff-Radford NR, la Fougere C, Levin J, Masters CL, Rossor MN, Salloway S, Saykin AJ, Schofield PR, Thompson PM, Weiner MM, Holtzman DM, Raichle ME, Morris JC, Bateman RJ, Benzinger TLS. Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study. Lancet Neurol. 2018 Mar;17(3):241-250. doi: 10.1016/S1474-4422(18)30028-0. Epub 2018 Feb 1. PubMed 29397305 ↗
  • Bateman RJ, Xiong C, Benzinger TL, Fagan AM, Goate A, Fox NC, Marcus DS, Cairns NJ, Xie X, Blazey TM, Holtzman DM, Santacruz A, Buckles V, Oliver A, Moulder K, Aisen PS, Ghetti B, Klunk WE, McDade E, Martins RN, Masters CL, Mayeux R, Ringman JM, Rossor MN, Schofield PR, Sperling RA, Salloway S, Morris JC; Dominantly Inherited Alzheimer Network. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med. 2012 Aug 30;367(9):795-804. doi: 10.1056/NEJMoa1202753. Epub 2012 Jul 11. PubMed 22784036 ↗
09

Updates

2 registry updates since Sep 25, 2026
Primary completion
Sep 2026→Sep 2031
Oct 5, 2026
Study completion
Sep 2026→Sep 2031
Oct 5, 2026
Show all 2 updates
  1. Oct 5, 2026
    Primary completion Sep 2026→Sep 2031
    Study completion Sep 2026→Sep 2031
  2. Sep 25, 2026
    Minor edits only
    + 2 other changes: identifiers and verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT00869817
Responsible party
Sponsor
First posted
Mar 26, 2009
Start date
Jan 2009
Primary completion
Sep 2031 (estimated)
Completion
Sep 2031 (estimated)
Last update
Oct 5, 2026

Study contacts

Alisha Daniels, MD,MHA
Contact
(314) 273-9057
Eric McDade, DO
principal investigator · Washington University School of Medicine
Alisha Daniels, MD,MHA
study director · (314) 273-9057

Oversight

Data monitoring committee
Yes
View the source record on ClinicalTrials.gov ↗

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