FTD science has come far in the 21 years since AFTD began its mission, with scientists closer than ever to breakthroughs that could bring meaningful change to families facing the disease. But progress is only possible through the participation of those diagnosed with FTD, their care partners, and their family members.

Clinical trials, which evaluate the safety and effectiveness of novel interventions like drugs, treatments, or medical devices, are one way families can get involved in research. Such trials vary in what they ask from participants and in the aspects of FTD they seek to address. Many current trials are focused on specific genetic causes for FTD. However, trials are forthcoming that are focused on less-studied genetic causes, as well as on non-genetic causes of FTD and on addressing FTD symptoms.

You might consider a natural history study, an observational study that tracks how a disease changes over a long period of time, to help researchers better understand the progression of FTD. The ALLFTD and GENFI studies are two examples of natural history studies of FTD being carried out at sites the U.S., Canada, and Europe.

For people diagnosed with FTD, brain donation is one of the most valuable scientific contributions they can make. In addition to providing families with a definitive postmortem diagnosis, brain donation can help scientists develop treatments and diagnostic tools to help create a future free of FTD. Note that brain donation can be a complex process, and early planning is critical.

For years, most research participation was done in person. But studies increasingly offer remote participation through Zoom and other apps; research is underway to develop mobile apps to support remote studies. If you live in a rural area or don’t have access to reliable transportation, you can search for remote research offerings.

A versatile online option that anyone can participate in is the FTD Disorders Registry. The Registry helps persons diagnosed, care partners, and family members stay current on the latest research opportunities. Questions answered upon registration provide researchers with crucial data to help scientists better understand how the disease works.

Ella’s Experience

Many members of the AFTD community have participated in FTD research or are actively enrolled in an ongoing study. AFTD spoke with Ella, whose family is enrolled in a clinical study for genetic FTD. (Ella’s name has been altered for her privacy.)

For Ella, the FTD journey began long ago, when her mother-in-law began to show dementia symptoms at age 59 and died five years later, though her condition was not recognized as FTD. Then, just over three years ago, Ella’s husband began to act differently – he had issues with anxiety, forming obsessions, and remembering things. While Ella remembered her mother-in-law’s dementia diagnosis, she didn’t initially think that her husband had the same disease, as his symptoms were different.

But as his memory issues progressed, the couple began looking for answers – first from his physician, then a neurologist. “In the initial evaluation [from the neurologist], his results came up as mild cognitive impairment – he couldn’t name the last five presidents or remember what day it was,” Ella told AFTD. “The neurologist said, ‘Let’s give it six months and see how he’s doing.’”

Symptoms continued to worsen, yet MRI scans were normal. After her husband received a warning letter from work, Ella sought a second opinion from another doctor, who recommended different tests, including genetic testing, which revealed the presence of an FTD-causing GRN gene variant.

“They said, ‘This is the GRN mutation we found; this is the cause of your symptoms and was the likely cause of your mother’s disease,’” Ella said. “They also told us that his sisters and brothers, as do any children of our own, carry a 50% chance of carrying the gene. In that same meeting, he told us there was no treatment, but we could look for a trial online to see what we find – after that, it was basically, ‘We’re sorry this happened, bye.’”

Ella searched the internet for a trial as suggested, it was challenging to navigate ClinicalTrials.gov and she wasn’t sure which ones were suitable to move forward with. More helpful was the doctor who contacted the couple to further discuss the results of the genetic tests: she offered help finding a trial her husband was eligible for.

“We found two gene therapy trials, one monoclonal antibody treatment trial, and the ALLFTD study,” Ella said. “She went over each of those with me and helped me navigate them – she even had an initial conversation with the staff at the interventional studies to help me understand their requirements. I later set up meetings with those people to find out what pros and cons were involved with each.”

Once she had the necessary information, Ella was able to take over managing trial participation, and has handled things on her own since.

“It’s been amazing to feel like you’re a part of evolving science,” Ella said. “There’s some comfort in knowing that, even if this doesn’t slow or stop progression for the person you love, you are making a difference and advancing the science to help prevent others from facing this horrific disease.”

Not only was the trial itself easy to participate in, but the trial staff were deeply committed to their work and provided excellent care for Ella’s husband throughout, making the experience comfortable for him, and productive for them.

“You are very much cared for in return for the essential knowledge you contribute,” Ella said. “I’ve felt a more personal connection and see so much compassion from the trial staff. They’re not just worried about how my husband is doing; they’re worried about me and look after me too. They know it’s a big responsibility to participate, and it’s time-consuming.”

Ella told AFTD that families facing FTD should consider genetic testing, since upcoming trials will target FTD-causing genetic variant not previously covered by clinical trials. She noted that roughly 40% of all FTD cases are familial.

“I’m a huge proponent of genetic testing,” Ella said. “Consider finding out if it is familial. It at least opens the opportunity to learn if you’re carriers of genes, and if so, trials might be available now or coming soon.”

AFTD recommends genetic counseling for anyone with questions about genetic FTD or genetic testing.

Resources for Research Involvement

Interested in learning more about how to get involved in research? Below, you’ll find some resources covering a range of options for participating in FTD studies. If you have questions or need guidance on research involvement, contact the AFTD HelpLine at 1-866-507-7222 or info@theaftd.org.

• Participate in Research PDF – This helpful resource lists many of the options featured here.
• Studies Seeking Participants Webpage – This page of AFTD’s website features several studies currently recruiting participants.
• ClinicalTrials.gov – Operated by the National Institutes of Health, this serves as a national directory for clinical trials and enables U.S. citizens to search for studies based on condition or treatment.
• FTD Disorders Registry – The FTD Disorders Registry keeps persons diagnosed, care partners, and family member up to date on research opportunities, and offers the chance to share their own lived experiences with scientists studying FTD.
• ALLFTD and GENFI natural history studies that study the how FTD progresses over time.
• The Brain Donation page of AFTD’s website offers guidance on how to approach the critically important process of donating a brain to FTD research.