Clinical Research in Familial FTD

When people ask what I do for a living, I say I work in clinical research, which doesn’t reveal much at first. But when I mention that I work on studies that involve frontotemporal dementia (FTD), it usually opens the door to a deeper conversation.

One portion of my role is serving as our site’s Project Manager for the ALLFTD study, which is an observational study that enrolls several different groups of people. This includes people with FTD, as well as people who may be at risk of developing FTD in the future based on their family history or their genetic testing results.

Familial FTLD (f-FTLD) occurs when more than one person in a family develops FTD or related conditions such as amyotrophic lateral sclerosis (ALS). This is often due to a genetic variant that is passed down from parent to child, generation after generation. Due to scientific advances in the field, researchers are now aware of about 30 genes that are associated with FTD. The three most commonly implicated genes are microtubule associated protein tau (MAPT), progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72).

Many people who enroll in ALLFTD are asymptomatic individuals who have a family history of FTD and know that they, too, may develop FTD in the future. They’ve seen the disease up close in a parent, sibling, or other relative. Now, they’re volunteering for research not because they are experiencing symptoms, but because they hope their story and their altruistic contribution to the research will help change the future for themselves and for others. Clinical research in this population is a unique and delicate endeavor.

Natural history studies in familial FTD, like ALLFTD, are some of the most promising avenues for identifying targets for earlier therapeutic intervention and more precise diagnostics. The longitudinal data collected ranges from biological samples (e.g., blood draws, lumbar punctures for cerebrospinal fluid collection) to cognitive testing, to brain imaging, and beyond. This rich dataset enhances the development of interventional clinical trials aimed at treating the underlying biology of FTD and related disorders. This is where project management becomes more than scheduling visits or tracking enrollment; it is a commitment to our research subjects and their families.

One of the things that makes my job fulfilling is experiencing the selfless dedication of our research participants. Participants generously donate their time, energy, and samples to further our scientific endeavor without guaranteed benefit to themselves. These participants are willing to take on the emotional discomfort of facing their potential risk for neurodegenerative disease to advance science, often taking time off work or away from other responsibilities to do so. Some are actively caring for or have cared for family members affected by FTD.

So, how do we ensure participants are treated well while volunteering to advance our science? Our team’s job is to ensure our studies are well-organized and are being done ethically. That means

·       Balancing the time commitment and the asks of our participants, while ensuring we are collecting useful data

·       Protecting participants’ privacy, particularly around genetic results

·       Building long-term retention grounded in trust and rapport

Working with at-risk individuals requires a deep respect for uncertainty. Some know their genetic risk status; others don’t want to know. Some are participating to help their families. Others are there because it gives structure, meaning, and a sense of purpose to something otherwise uncontrollable.

One of the most important parts of my role is ensuring participants feel seen—not just as data points or future cases, but as people. We check in regularly. We train our team members to lead with empathy. Every visit is an opportunity to reaffirm that participants are contributing something vital to the future of neurodegenerative disease research.

If you’re working in the world of FTD, you know how inspiring this space can be. Patients, families, clinicians, researchers, and scientists all come together, working as one to create hope for the future.  We don’t have all the answers—but every scan, every sample, every data point brings us closer to a reality where a cure, and perhaps even prevention, is possible.

And for me, there’s no more meaningful place to be.

~ Jessica Legaspi MS

Clinical Research Project Manager