Identifying biomarkers for early-onset Alzheimer's disease in mutation carriers

Dominantly Inherited Alzheimer Network (DIAN)

Observational Washington University School of Medicine · NCT00869817

This study is trying to find early signs of Alzheimer's disease in people who carry a specific gene mutation to see how it affects their brain and body compared to those who don’t have the mutation.

Quick facts

Study typeObservational
Enrollment700 (estimated)
Ages18 Years and up
SexAll
SponsorWashington University School of Medicine Academic / other
Locations26 sites (Jacksonville, Florida and 25 other locations)
Trial IDNCT00869817 on ClinicalTrials.gov

What this trial studies

This observational study focuses on individuals with dominantly inherited Alzheimer's disease (AD) to identify biomarkers that may predict the onset of the disease. It aims to explore preclinical changes in biological fluids and neuroimaging in gene carriers compared to non-carriers. The study will investigate the progression of amyloid-beta 42 levels, amyloid deposition, cerebral metabolic activity, and structural changes in the brain. Participants will be recruited from an established international registry, including both symptomatic and asymptomatic individuals.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18 and older who are children of individuals with known Alzheimer's mutations and are cognitively normal to mildly impaired.

Not a fit: Patients under 18 or those with medical or psychiatric illnesses that interfere with study participation may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to early detection and intervention strategies for individuals at risk of developing Alzheimer's disease.

How similar studies have performed: Other studies have shown promise in identifying biomarkers for Alzheimer's disease, making this approach both relevant and potentially impactful.

Eligibility criteria

Show full inclusion / exclusion criteria
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 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:

* 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

Where this trial is running

Jacksonville, Florida and 25 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Alzheimer's DiseaseAlzheimer's diseaseantecedent biomarkersAmyloid Precursor Protein mutationpresenilin I mutationpresenilin 2 mutationAutosomal Dominant Alzheimer's Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.