Participating in Alzheimer's research

A Youngtimers Guide ・ Last Reviewed Nov 12 2025

If you come from a family affected by familial Alzheimer’s disease (FAD), also known as dominantly inherited Alzheimer’s disease (DIAD), you’re not just navigating a uniquely challenging genetic reality—you’re also sitting on the front lines of some of the most important Alzheimer’s research happening in the world.

The scientific community has learned more about Alzheimer’s disease in the last 30 years than in the century before it. Much of that is thanks to people with genetic mutations that cause FAD.

The willingness of FAD families to participate in studies, contribute blood and spinal fluid, undergo brain scans, travel for visits, and even take investigational drugs has changed the trajectory of Alzheimer’s research. In fact, nearly all Alzheimer’s drugs currently in development exist because of discoveries made using the mutations FAD families carry.

If you’re considering whether or not to participate in research, this guide will help you understand:

• Why FAD families are particularly valuable to Alzheimer’s research

• Types of Alzheimer’s research

• Procedures one can expect in an Alzheimer’s study

• Common types of treatments in Alzheimer’s drug trials

• How participating in a clinical trial might impact your life

• Things to know and questions to ask before joining a study

• Key organizations in familial Alzheimer’s disease research

• Opportunities to participate in familial Alzheimer’s disease research

• Milestones in familial Alzheimer’s disease research

• Tools, resources, and support as you consider participating in Alzheimer’s research

Why are FAD families so valuable to Alzheimer’s research?

Because FAD is genetically predictable, it gives scientists a rare chance to study how Alzheimer’s develops before symptoms appear. This allows researchers to:

• Learn about the fundamental biology that causes the disease

• Track brain changes years or decades before diagnosis

• Test whether treatments can slow, delay, or prevent disease symptoms

• Study Alzheimer’s progression in younger people, who tend to have fewer complicating health issues 

FAD research is essential to finding therapies that work—not only for genetic forms of Alzheimer’s, but potentially for all the broader Alzheimer’s community.

What it means to participate in Alzheimer’s research

Participating in research can look different depending on the type of study you decide to join. Some studies involve testing investigational drugs, and some don’t. Some studies follow people over many years, allowing researchers to study how the brain and disease changes over time without intervention. 

Research studies can help us learn:

1. How Alzheimer's  disease forms and progresses over time (so we might figure out how to prevent it).

2. How factors like diet, lifestyle, and genetics contribute to risk, susceptibility, age of onset, and/or resilience of Alzheimer’s disease 

3. How and if a drug works to prevent or delay disease.

Types of research include:

• Observational studies (also called longitudinal studies)  track what’s happening in the body and brain over time. No drug is involved. These studies are essential to understanding how Alzheimer’s disease progresses. These studies have provided critical information on developing appropriate disease biomarkers and critical timepoints for drug intervention. 

• Drug trials (also called interventional trials) test whether a treatment can prevent, slow, or reverse the disease. Participants are often randomized to receive either the active drug or a placebo. Some trials eventually allow all participants to take the drug in what's called an open-label extension.

• Brain donations are another powerful contribution a person can make to Alzheimer’s research. By examining brain tissue after death, scientists can assess exactly how the disease manifested in a particular person. They can also see exactly how an investigational drug (if taken) affected amyloid plaques, tau tangles, and neurodegeneration.

Videos about clinical trial participation

Dr. Randall Bateman is a researcher and director of the DIAN-TU. In this 2-part series,  he answers Youngtimers’ questions about FAD, important insights have been gleaned from researching the FAD community, where the Alzheimer's disease field currently is, and where it's going.

Note that these videos were recorded in 2021, and Alzheimer’s research has progressed rapidly since then.

What types of procedures can you expect in Alzheimer’s research?

Participating in a study often means undergoing a mix of cognitive tests, imaging scans, and tissue collection. Some are straightforward. Others can be invasive or uncomfortable. Most procedures take place in a clinic, but some activities can be handled with a home visit or even a virtual appointment.

Here’s what to expect:

Clinical Assessment

Includes reviewing your family history, physical and cognitive health, emotional well-being, personality, and behavior. A clinical assessment can be done in clinic or in a virtual appointment. This can take up to 2.5 hours.

Cognitive Testing

These tests are designed to find the limits of your memory, language, planning, problem-solving, and concentration. Sometimes, people feel exhausted or report feeling “dumb” afterward.

Some tests are completed using pen and paper, some with oral questions posed by testing staff, and others are performed on a smartphone, tablet or computer. Cognitive tests typically happen in clinic and takes up to 1.5 hours. For some studies, there’s a mobile app compontent that takes place at home.

MRI Scans

MRI scans use magnetic imaging to check brain volume and structure. This involves lying  still on your back with a velcro strap positioned across your forehead to hold your head still. During the scan, you will hear the loud noises of the machines. Headphones will be provided to help minimize the noise. The scan can take up to 1.5 hours.

PET Scans

PET scans use chemicals called radioactive tracers to measure brain activity and to measure the amount of specific proteins in the brain. These scans help scientists visualize amyloid or tau proteins in your brain in real time. 

During the procedure, a small amount of the radioactive tracer is injected into a vein in your arm using a small plastic IV tube. After checking vital signs, you are brought into the PET scanner. The procedure can take 1.5 - 3 hours.

Some people might be alarmed when they hear the word ‘radioactive,’ but the tracers used don’t have side effects. The level of radiation in this kind of test tends to be very low.

Bloodwork

Like CSF, blood is used to examine what proteins are changing in the body, including amyloid and tau. In this procedure, blood is collected from your vein, often 3 vials (approximately 6 tablespoons) from your forearm. The collected blood is then used for:

1. safety monitoring, such as checking blood cell counts

2. genetic testing, to determine whether you carry a genetic mutation that causes Alzheimer’s disease

3. measuring biomarker changes, such as amyloid and tau

4. levels of the investigational drug in your blood stream

Blood biomarkers may one day replace spinal taps and expensive scans for Alzheimer’s diagnosis.

Lumbar Punctures (Spinal Taps)

Lumbar punctures are used to collect cerebrospinal fluid (CSF). CSF is crucial to Alzheimer’s research because it gives scientists a direct window into what’s happening in the brain. During the procedure, your lower back is numbed with lidocaine, and a very thin needle is inserted to collect the CSF.

The procedure itself typically takes about 30 minutes. After the CSF is collected, you’ll typically lay flat for at least 1 hour to help heal the puncture. Many clinics recommend bed rest for at least 24 hours after the procedure.

Somewhere between 10% and 40% of people who have a lumbar puncture develop a headache (called a post-dural puncture headache (PDPH) or spinal headache) afterward, typically 1-3 days after the procedure. A person’s risk of headache is higher if they are young (aged 20-40), female, or dehydrated.

The headache is typically positional, worsening when a person sits or stands and relieved when a person lies down. Most are managed with bed rest, hydration, and over-the-counter pain relievers. Some people who develop a headache may require a simple procedure called a “blood patch” to stop the CSF leak that causes the headache.

What types of treatments can you expect in Alzheimer’s drug trials? 

In drug trials, treatments typically target either:

• Amyloid plaques: Sticky clumps of protein that build up decades before symptoms appear.

  • For example, the DIAN-TU Primary Prevention Trial ⧉, which began in late 2024, is testing whether the drug remternetug can prevent amyloid plaques from forming in people 11–25 years away from their expected age of onset.

• Tau tangles: Misfolded proteins inside neurons, closely tied to memory loss.

• Both: Newer trials are starting to combine amyloid and tau interventions.

  • For example, the DIAN-TU Tau NexGen Trial ⧉, which began in 2021, is testing whether the drugs lecanemab (an amyloid targeting drug) combined with E2814 (a tau targeting drug) can prevent, delay, or possibly reverse Alzheimer’s disease changes in the brain.

How might clinical trial participation impact your life?

Joining a clinical trial is a big commitment. It may affect your personal, emotional, physical, and financial life in ways you haven’t considered. Here’s what you should know:

• You may need to delay having kids. Some studies require that you not get pregnant or breastfeed while enrolled.

• You may receive treatments at home. Nurses may visit you to administer injections or collect samples.

• You’ll need to travel to study sites. Many studies require yearly or biannual in-person evaluations, which can sometimes mean flying to another city and staying for 3-5 days.

• There may be side effects. You could have reactions to the drug, feel sore after tests, or experience fatigue from the logistics alone.

• You’ll have to confront the disease head-on. Participating can make Alzheimer’s feel more real and more personal, especially when learning your genetic status or undergoing brain imaging. You may need to navigate conversations with family or employers who may be impacted by your participation in research.

Questions to ask before joining a study

Before you agree to participate in a study, here are some things you should know and questions you might want to ask.

• Research requires voluntary consent. You should be given adequate information and time to understand the study, including what it involves, what are the benefits and the risks, etc. You should never feel pressured to join a study. Research is always completely voluntary. 

  • The US Department of Health and Human Services (HHS) has compiled a list of FAQs about informed consent ⧉.

• Research must have scientific merit. Before a study on humans is allowed to be carried out, it must undergo a thorough review from experts in the field. The team must prove that the study will provide new and important knowledge to the field. Once a study is approved, your contribution will help researchers answer important questions about a treatment or disease. You might ask:

  • What is this study trying to learn?

• The benefits of being in research outweigh the risks. Before a study recruits human subjects, the researchers have to show that they have examined all possible benefits and risks for participants. For example, that the treatment has enough benefits (like improving disease outcomes) to weigh the potential side effects it may cause. You might ask:

  • What will participation require from me? (Time, travel, etc)

  • Do I need to know my genetic status in order to participate? Will I need to learn my genetic status in order to participate?

  • What chance will I receive a treatment or placebo?

  • What are the known risks and side effects?

  • Will I receive any results?

  • What kind of support (emotional, logistical, financial) is offered?

• Participants are able to terminate their participation in the research at any time. If your circumstances change and participating in the study becomes too difficult for you, you can stop at any time. It’s important to think through potential circumstances before enrolling. Terminating study participation early means researchers lose important data. You might ask:

  • What happens if I drop out early?

These questions are just an example. The US Department of Health and Human Services (HHS) has compiled a list of questions to ask about volunteering for a research study ⧉.

Key organizations in familial Alzheimer’s disease research

Opportunities to participate in familial Alzheimer’s disease research

• DIAN Expanded Registry ⧉: an email listserv that helps participants stay up to date on research and study-related opportunities. It also helps researchers find participants who might be interested in clinical trials. Open to anyone who has or had a family member with FAD. 

  • Status: actively enrolling. 

• DIAN Observational Study ⧉ – monitors people over time who carry or who are at risk of carrying a gene mutation (in PSEN1, PSEN2, or APP) that causes FAD. 

  • Status: actively enrolling. 

• DIAN-TU Primary Prevention Trial ⧉ (DIAN-TU-002)– Uses investigational drug remternetug, an anti-amyloid antibody that is given subcutaneously (under the skin), to test whether it is possible to prevent amyloid in the brains of people who are at risk of FAD, and if doing so early enough will prevent dementia. Open to people who are asymptomatic and are 11–25 years away from their parent’s age of symptom onset. 

  • Status: actively enrolling. 

• DIAN-TU Secondary Prevention Trials ⧉ – Tests whether it is possible to stop the disease process before permanent damage occurs in the brains of FAD mutation carriers. Open to people who are asymptomatic and mildly symptomatic (within 10 years to symptom onset or 10 years past symptom onset)

• DIAN-TU-001・E2814 ・”Tau NexGen” ⧉ - Tests lecanemab (an anti-amyloid antibody) and E2814 (an anti-tau antibody) that is given intravenously (i.v.).

  • Status: no longer enrolling

  • Expected to be completed in 2028.

• DIAN-TU-003・ART ・ “Amyloid Removal Trial” ⧉ - An open-label study to treat FAD mutation carriers from the DIAN-TU-001 gantenerumab OLE period with lecanemab for a minimum of 5 years.

  • Status: no longer enrolling. 

• DIAN-TU-001・Solanezumab/Gantenerumab Trial ⧉ - From 2012-2020, this trial investigated the effectiveness and safety of two amyloid drug treatments (solanezumab and gantenerumab) in FAD mutation carriers in the US and globally. From 2020-2023, there was an open-label extension (OLE) period in which all participants who tested positive for an FAD mutation were given gantenerumab.

  • Status: study completed. 

• UCSF Development in Families with Neurodegenerative Disease ⧉ -To understand the brain development in children from FAD families. Open to children between ages 7-17.

  • Status: actively enrolling. 

Other international research opportunities for people with FAD (as of September 2025)

Colombia: API Autosomal Dominant Alzheimer’s Disease (ADAD) Colombia Trial

Studies in Columbia are centered around carriers of the PSEN1 E280A (“Paisa”) mutation. This extended family represents the world’s largest ADAD kindred.

• Crenezumab ⧉ - From 2013-2017, the trial investigated the effectiveness and safety of an amyloid drug treatment (crenezumab).

  • Status: study completed.

• Donanemab + RG6289R ⧉ - From 2026-2030, the trial will evaluate the effectiveness and safety of an amyloid drug (donanemab ⧉) and a gamma secretase modulator (RG6289 ⧉) or a combination of both.

  • Status: coming soon.

Europe

• Tau-lowering Drug NIO752 Trials: From 2023-2028, two trials will evaluate the effect, safety, and tolerability of an anti-sense oligonucleotide (ASO) against tau in PSEN1 and APP mutation carriers who are symptomatic. An ASO is a short, synthetic strand of DNA or RNA designed to target and reduce the production of harmful proteins.

  • Study details

    • NIO-SILK: Effect of NIO752 on Tau Synthesis ⧉

    • Safety and Tolerability of NIO752 ⧉

  • Status: ?

Find more studies

ClinicalTrials.gov is a public database of clinical research studies, including their results. It is maintained by the U.S. National Library of Medicine (NLM) at the National Institutes of Health (NIH) and serves as a registry for both federally and privately supported studies worldwide.

To find studies relevant to our community, use the Condition/Disease field to search for FAD-specific terms like “Autosomal Dominant Alzheimers Disease”, “Familial Alzheimers Disease”, “PSEN1 Mutation”, “PSEN2 Mutation”, or “APP Mutation.”

Milestones in familial Alzheimer’s disease research

FAD families have the unique ability to help researchers understand Alzheimer’s disease, because disease develops early and predictably in people with FAD genetic mutations.

Since people who develop FAD are typically younger than those with late onset Alzheimer’s, they have fewer comorbidities to complicate research. And because the estimated age of symptom onset is predictable, scientists are able to monitor the disease progression of people with FAD genetics to more precisely understand how Alzheimer's develops.

Our understanding of Alzheimer’s disease has progressed rapidly over the past 40 years.

• 1906:  First case of AD is described by Alois Alzheimer's, based on his study of a 51-year-old woman and her brain with suspected FAD.¹

• 1984: Researchers identify amyloid-β protein in the brain plaques characteristic of the disease.²

• 1985: Scientists identify the tau protein as the main component of the neurofibrillary tangles found in Alzheimer's brains.³

• 1987: First FAD gene, the amyloid precursor protein (APP), is discovered.⁴

• 1995: PSEN1 and PSEN2 genes are identified as causes of FAD.⁵

• 1993: Cerebrospinal fluid (CSF) biomarkers are discovered.⁶

• 2004: Radioactive imaging tracer Pittsburgh compound B (PiB) enables non-invasive detection and tracking of amyloid deposits in the human brain, making it possible to diagnose Alzheimer’s disease definitively using a PET scan.⁷

• 2008: The Dominantly Inherited Alzheimer Network (DIAN) launches.⁸

• 2012: DIAN studies show amyloid builds up 25 years before symptoms⁹, and first prevention trial launches¹⁰

• 2020: Researchers demonstrate the accuracy of perhaps the most useful biomarker yet: a form of the protein tau that can be detected in a simple blood test.¹¹

• 2021: Aducanumab becomes the first disease-modifying therapy for Alzheimer’s approved by the US FDA. But the approval of this anti-amyloid antibody proved controversial, with many researchers questioning the therapy’s ability to slow cognitive decline.¹² Aducanumab will be discontinued in 2024.¹³

• 2023: Lecanemab, marketed as Leqembi, receives first full FDA drug approval for treatment of Alzheimer’s.¹⁴ Lecanemab is found to slow the rate of cognitive decline by  27% compared to placebo.¹⁵

• 2025: FDA approves blood test (the Lumipulse G pTau217/ß-Amyloid 1-42 Plasma Ratio) for the early detection of amyloid plaques associated with Alzheimer’s disease in symptomatic adults patients 50 years or older.¹⁶

The rate of progress in Alzheimer’s research is improving rapidly, made possible by smart researchers, generous funders, and YOU - the FAD community.

If you’re interested in the history of Alzheimer’s research, you may enjoy Valley of Forgetting by Jennie Erin Smith. It tells the story of Dr. Francisco Lopera and his work to discover and research FAD with families in the mountains of Columbia.

Tools, resources, and support as you consider participating in Alzheimer’s research

Even though FAD is rare, you're not alone. Many members of the FAD community have faced the decision of whether to participate in Alzheimer’s research.

Youngtimers community programs can facilitate connections to those who have been through this.

• Sign up for our newsletter to stay informed of new opportunities to participate in Alzheimer’s research.

• Join a support group

• Leverage our peer-to-peer program to connect one-on-one with others who have either participated in research themselves, or faced the decision.

• Join the DIAD Private Facebook Group ⧉

• Browse the EOFAD Online Forum ⧉

Learn more about participating in research with these articles:

• FAQs about Participating in Alzheimer’s Research ⧉ from UCSF

• Questions to Ask about Volunteering for a Research Study ⧉ from the US Department of Health and Human Services (HHS)

Should you participate in Alzheimer’s research?

Participating in research is deeply personal. It’s also profoundly generous.

For some, joining a study offers a sense of agency, something tangible to do in the face of an overwhelming disease. For others, the timing isn’t right, the risks are too high, or life simply won’t allow it. All of these responses are valid.

You don’t owe anyone your body or your data. There is no “right” choice—only the one that aligns with your values, your needs, and your boundaries. And whether you participate directly or support from the sidelines, your voice in this community matters.

If you do choose to step into research, know this: every visit, every vial, every scan moves us closer to a world without Alzheimer’s. And if you don’t? You're still part of that world. You're still part of us.

Sources

1. Alzforum. (n.d.). PSEN1 F176L. Retrieved from https://www.alzforum.org/mutations/psen1-f176l ⧉

2. Greenberg, S. M., & Davies, P. (1984). A specific method for the detection of Alzheimer’s neurofibrillary tangles using antisera to paired helical filaments. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 800(1), 77–82. https://www.sciencedirect.com/science/article/abs/pii/0006291X84912099 ⧉

3. Brion, J. P., Couck, A. M., Passareiro, E., & Flament-Durand, J. (1985). Neurofibrillary tangles of Alzheimer's disease: An immunohistochemical study. Journal of Submicroscopic Cytology, 17(1), 89–96. PMID: 3973960

4. Tcw, J., & Goate, A. M. (2017). Genetics of β-amyloid precursor protein in Alzheimer’s disease. Cold Spring Harbor Perspectives in Medicine, 7(6), a024539. https://doi.org/10.1101/cshperspect.a024539 ⧉

5. Vetrivel, K. S., Zhang, Y.-W., & Xu, H. (2006). Pathological and physiological functions of presenilins. Molecular Neurodegeneration, 1, 4. https://doi.org/10.1186/1750-1326-1-4 ⧉

6. Papassotiropoulos, A., Maddalena, A., Gretener, D., Nitsch, R. M., & Hock, C. (2004). Cerebrospinal fluid biomarkers for the diagnosis of Alzheimer’s disease. In B. T. Hyman, J.-F. Demonet, & Y. Christen (Eds.), The living brain and Alzheimer’s disease (pp. 11–22). Springer. https://doi.org/10.1007/978-3-642-59300-0_2 ⧉

7. Klunk, W. E., Engler, H., Nordberg, A., Wang, Y., Blomqvist, G., Holt, D. P., Bergström, M., Savitcheva, I., Huang, G. F., Estrada, S., Ausén, B., Debnath, M. L., Barletta, J., Price, J. C., Sandell, J., Lopresti, B. J., Wall, A., Koivisto, P., Antoni, G., Mathis, C. A., & Långström, B. (2004). Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound-B. Annals of Neurology, 55(3), 306–319. https://doi.org/10.1002/ana.20009 ⧉

8. Washington University School of Medicine. (n.d.). Dominantly Inherited Alzheimer Network (DIAN). Retrieved from https://medicine.washu.edu/impact/neurosciences/dian/ ⧉

9. Bateman, R. J., Xiong, C., Benzinger, T. L., Fagan, A. M., Goate, A., Fox, N. C., Marcus, D. S., Cairns, N. J., Xie, X., Blazey, T. M., Holtzman, D. M., Santacruz, A., Buckles, V., Oliver, A., Moulder, K., Aisen, P. S., Ghetti, B., Klunk, W. E., McDade, E., Martins, R. N., ... Morris, J. C. (2012). Clinical and biomarker changes in dominantly inherited Alzheimer's disease. New England Journal of Medicine, 367(9), 795–804. https://doi.org/10.1056/NEJMoa1202753 ⧉

10. Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU). (2012–present). Master Protocol DIAN-TU-001 [Clinical trial]. ClinicalTrials.gov Identifier: NCT01760005.

11. Alzheimer’s Association International Conference. (2020). Blood Biomarkers (AAIC 2020) [PDF]. https://aaic.alz.org/downloads2020/AAIC2020-BloodBiomarkers.pdf ⧉

12. Park, A. (2021, June 9). The FDA’s approval of a controversial new Alzheimer’s drug has experts alarmed. TIME. https://time.com/6072980/alzheimers-drug-approval-controversy ⧉

13. Alzheimer’s Association. (n.d.). Aducanumab (Aduhelm). Retrieved from https://www.alz.org/alzheimers-dementia/treatments/aducanumab ⧉

14. U.S. Food and Drug Administration. (2023, July 6). FDA converts novel Alzheimer’s disease treatment to traditional approval [Press release]. https://www.fda.gov/news-events/press-announcements/fda-converts-novel-alzheimers-disease-treatment-traditional-approval ⧉

15. van Dyck, C. H., Swanson, C. J., Aisen, P., Bateman, R. J., Chen, C., Gee, M., Kanekiyo, M., Li, D., Reyderman, L., Cohen, S., Froelich, L., Katayama, S., Lai, R. Y. K., Maeda, J., Masters, C. L., Nishikawa, M., Shah, S., Skovronsky, D. M., & Watson, B. (2023). Lecanemab in early Alzheimer’s disease. New England Journal of Medicine, 388(1), 9–21. https://doi.org/10.1056/NEJMoa2212948 ⧉

16. Alzheimer’s Association. (2025, January 23). FDA clears first blood test for Alzheimer’s diagnosis. https://www.alz.org/news/2025/fda-clears-blood-test-alzheimers-diagnosis ⧉