Dominantly Inherited Alzheimer Network (DIAN) (DIAN)
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT00869817 |
Recruitment Status :
Recruiting
First Posted : March 26, 2009
Last Update Posted : July 16, 2019
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease |
---|
Alzheimer's Disease |
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:
- Maintain the established international DIAN 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 and assess participants every 2 years with the uniform DIAN protocol.
-
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:
- In asymptomatic mutation carriers (using non-carriers as controls), determine the temporal ordering and rate of intraindividual change in clinical, cognitive, behavioral, imaging, and fluid biomarkers of AD prior to estimated age of symptom onset.
- In symptomatic mutation carriers, compare the clinical and neuropathological phenotypes of ADAD to those of LOAD, using datasets such as ADNI.
- 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, exploratory investigation of new biomarker analytes, imaging modalities and techniques, perform exploratory genetic analysis to test whether novel AD genes identified through GWAS and sequencing of late onset AD cases also influence variation in age at onset of changes in biomarker endophenotypes in FAD kindred, and generate genome-wide DNA methylation data for pilot study and perform exploratory analyses to look for changes in DNA methylation in longitudinal samples from DIAN participants.
- 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).
Study Type : | Observational |
Estimated Enrollment : | 700 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Dominantly Inherited Alzheimer Network (DIAN) |
Study Start Date : | January 2009 |
Estimated Primary Completion Date : | July 2024 |
Estimated Study Completion Date : | July 2024 |

Group/Cohort |
---|
1
Mutation Positive
|
2
Mutation Negative
|
- 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. ]
- 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 ]
- 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 ]
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Written informed consent 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. Primary enrollment will focus on recruitment of asymptomatic adult children who are more than 15 years younger than the estimated age of symptom onset. Enrollment of new participants with very mild, mild, or 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:
- 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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00869817
Contact: DIAN Global Coordinator | 314-747-1940 | ||
Contact: Laura Swisher, MS | 314-747-1940 |
United States, Florida | |
Mayo Clinic Jacksonville | Recruiting |
Jacksonville, Florida, United States, 32224 | |
Contact: Sochenda Chea, BHA CRC 904-953-3234 chea.sochenda@mayo.edu | |
Principal Investigator: Neil R. Graff-Radford, MD | |
United States, Indiana | |
Indiana University-Indiana Alzheimer Disease Center | Recruiting |
Indianapolis, Indiana, United States, 46202 | |
Contact: Jill Buck, RN 317-963-1847 jilmbuck@iu.edu | |
Principal Investigator: Bernardino Ghetti, MD | |
United States, Massachusetts | |
Brigham and Women's Hospital | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Paige Sparks, BA 617-643-7799 kpsparks@bwh.harvard.edu | |
Principal Investigator: Jasmeer Chhatwal, MD, PhD | |
United States, Missouri | |
Washington University School of Medicine | Recruiting |
Saint Louis, Missouri, United States, 63108 | |
Contact: Wendy Sigurdson, RN, MPH 314-362-2256 sigurdsonw@neuro.wustl.edu | |
Contact: Tamara Donahue, RN, MS 314-362-2147 donahuet@neuro.wustl.edu | |
Principal Investigator: Randall Bateman, MD | |
United States, New York | |
Columbia University | Recruiting |
New York, New York, United States, 10032 | |
Contact: Katie Neimeyer 212-305-5909 Kn2416@cumc.columbia.edu | |
Principal Investigator: James Noble, MD | |
United States, Pennsylvania | |
University of Pittsburgh | Recruiting |
Pittsburgh, Pennsylvania, United States, 15260 | |
Contact: Zana Ikonomovic, MD 412-692-2740 ikonomovics@upmc.edu | |
Principal Investigator: Sarah Berman, MD, PhD | |
United States, Rhode Island | |
Butler Hospital | Recruiting |
Providence, Rhode Island, United States, 02906 | |
Contact: Courtney Bodge, PhD 401-455-6403 cbodge@butler.org | |
Principal Investigator: Stephen Salloway, MD | |
Argentina | |
Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia" (FLENI) Instituto de Investigaciones Neurológicas Raúl Correa | Recruiting |
Buenos Aires, Argentina | |
Contact: Patricio Chrem, MD 20565342 pchremmendez@fleni.org.ar | |
Principal Investigator: Ricardo Allegri, MD, PhD | |
Australia, New South Wales | |
Neuroscience Research Australia | Recruiting |
Sydney, New South Wales, Australia, 2031 | |
Contact: William S. Brooks, MBBS, MPH +612 9399 1101 w.brooks@NeuRA.edu.au | |
Principal Investigator: Peter Schofield, PhD, DSc | |
Australia, Victoria | |
Mental Health Research Institute, University of Melbourne | Active, not recruiting |
Melbourne, Victoria, Australia, 3130 | |
Australia, Western Australia | |
Sir James McCusker Alzheimer's Disease Research Unit, Edith Cowan University | Recruiting |
Perth, Western Australia, Australia, 6009 | |
Contact: Kevin Taddei +61-(0)8-6304-5107 k.taddei@ecu.edu.au | |
Principal Investigator: Ralph Martins, PhD | |
Germany | |
German Center for Neurodegenerative Diseases (DZNE) Munich, and University Hospital Ludwig-Maximilians-Universitat (LMU) Munich | Recruiting |
Munich, Germany, D-81377 | |
Contact: Siri Houeland di Bari +49 89 4400 46458 Siri.HouelandDiBari@dzne.de | |
Principal Investigator: Johannes Levin, MD, PhD | |
German Center for Neurodegenerative Diseases (DZNE) Tübingen and Hertie-Institute for Clinical Brain Research, University of Tübingen | Recruiting |
Tübingen, Germany, D-72076 | |
Contact: Elke Kuder-Buletta +49-(0)7071-2987584 Elke.Buletta@med.uni-tuebingen.de | |
Principal Investigator: Mathias Jucker, PhD | |
Japan | |
Osaka City University | Recruiting |
Osaka City, Japan | |
Contact: Hisako Fujii, PhD +81-6-6645-3443 hfujii@med.osaka-cu.ac.jp | |
Principal Investigator: Hiroyuki Shimada, MD, PhD | |
Korea, Republic of | |
Asan Medical Center | Recruiting |
Seoul, Songpa-Gu, Korea, Republic of, 05505 | |
Contact: Jee Hoon Roh, MD, PhD 82-2-3010-3443 roh@amc.seoul.kr | |
Principal Investigator: Jae Hong Lee, MD, PhD | |
United Kingdom | |
Institute of Neurology, Queen Square | Recruiting |
London, United Kingdom, WC1N 3BG | |
Contact: Jane Douglas, RN MPhil. 0044 (0)845 155 5000 ext 723560 jdouglas@drc.ion.ac.uk | |
Principal Investigator: Martin Rossor, MD |
Principal Investigator: | Randall J. Bateman, MD | Washington University School of Medicine |
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Washington University School of Medicine |
ClinicalTrials.gov Identifier: | NCT00869817 |
Other Study ID Numbers: |
IA0147 U19AG032438 ( U.S. NIH Grant/Contract ) |
First Posted: | March 26, 2009 Key Record Dates |
Last Update Posted: | July 16, 2019 |
Last Verified: | July 2019 |
Alzheimer's disease antecedent biomarkers Amyloid Precursor Protein (APP) mutation |
presenilin I (PS1) mutation presenilin 2 (PS2) mutation Autosomal Dominant Alzheimer's Disease |
Alzheimer Disease Dementia Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Tauopathies Neurodegenerative Diseases Neurocognitive Disorders Mental Disorders |