Advancing Prevention Research in Inherited Alzheimer’s Disease

The Dominantly Inherited Alzheimer Network (DIAN) is an international research program investigating rare inherited forms of Alzheimer’s disease caused by changes in the PSEN1, PSEN2, or APP genes. Led globally by Washington University in St. Louis, the Australian DIAN program is conducted across Sydney, Melbourne and Perth. At Neuroscience Research Australia (NeuRA), the program is led by A/​Prof Emma Devenney, neurologist and researcher, who serves as the Sydney Principal Investigator for DIAN.

Why does this research matter?

Dominantly inherited Alzheimer’s disease provides a unique opportunity to understand how Alzheimer’s develops many years before symptoms begin. Because the genetic cause is known, researchers can study the biological changes that occur in the brain over time and identify the earliest stages of disease, creating an important window for prevention.

NeuRA contributes to the Dominantly Inherited Alzheimer Network Observational Study (DIAN-Obs), a landmark international study that transformed our understanding of Alzheimer’s disease by demonstrating that changes in the brain can begin 10 – 20 years before cognitive symptoms appear. These discoveries have reshaped Alzheimer’s research worldwide and laid the foundation for prevention focused clinical trials.

Building on these findings, the DIAN Trials Unit (DIAN-TU) was established in 2012 as the world’s first clinical trial platform dedicated to preventing Alzheimer’s disease in people with dominantly inherited Alzheimer’s disease. NeuRA is currently participating in three international clinical trials, including two secondary prevention studies and a newly launched primary prevention trial. This placebo-controlled study is evaluating investigational treatments that target amyloid accumulation in individuals who are approximately 11 – 25 years before their expected symptom onset. As new studies continue to emerge, DIAN is advancing the development of potential disease-modifying therapies with the aim of delaying, preventing, and ultimately changing the course of Alzheimer’s disease.

Participation in DIAN

Who may be eligible?

You may be eligible to participate in DIAN-Obs or a DIAN-TU clinical trial if you:

• Are aged 18 years or older
• Have a parent with, or personally carry, a known PSEN1, PSEN2, or APP genetic mutation associated with dominantly inherited Alzheimer’s disease
• Are currently cognitively normal or have very mild or mild cognitive impairment
• Have a study partner (such as a family member or close friend) who can attend selected study visits and provide information about your daily functioning

If your family has experienced Alzheimer’s disease affecting multiple relatives across generations, it may be worth exploring whether there is an inherited genetic cause. Even if genetic testing has not yet been undertaken, we encourage you to contact our team to discuss your family’s family history and whether DIAN may be suitable for you.

What does participation involve?

Depending on the study, participation may include:

• Clinical and neurological assessments
• Cognitive assessments
• Blood tests
• MRI brain scans
• Amyloid PET scans
• Tau PET scans
• Lumbar puncture to collect cerebrospinal fluid (CSF)

Every participant makes an important contribution to research that is changing our understanding of Alzheimer’s disease. Together, participants and researchers are helping advance discoveries that may lead to earlier intervention, more effective treatments, and ultimately the prevention of inherited Alzheimer’s disease for future generations.

Questions and Enquiries

If you would like to learn more about the study or enquire about participation, please contact the research team using the details below.

E | email hidden; JavaScript is required

T | (02) 9399 1141