What is it like to participate in a research study for DRPLA?

by | Sep 21, 2023 | News Articles

CureDRPLA is currently funding a Natural History and Biomarkers Study, aimed at gaining a deeper understanding of the progression of DRPLA over time, as well as identifying any genetic factors and markers that might predict disease progression. This study will provide useful information to support the design and conduct of clinical trials in the future.

For those who have never participated in a research study, it can be challenging to envision what to expect. Furthermore, it is worth noting that each study is unique, demanding varying levels of commitment.

To provide you with a firsthand perspective, we are delighted to share a testimonial from a family that participated in the DRPLA Natural History and Biomarkers Study. Hearing directly from Kerri Mackey will offer a glimpse into what the experience can be like:

“Our trip to North Carolina for the DRPLA research study went so smooth. We had to travel from Florida to the University of North Carolina. The research coordinator contacted us and was great about working around our schedule. She made sure all of our lodging expenses were arranged. Prior to the trip she sent us an itinerary of each day.

They were great about asking how they could be the most accommodating to meet our kids needs. We have four children with DRPLA and taking them out all at the same time is not an easy feat. The research coordinator was great though. She met us in the parking lot every day and helped get all of the kids where they needed to be. It took all of the stress out of trying to find our way. She also would stay with whatever kids I needed her to, while I went back to the exam rooms with the others. The hospital also let the kids all back to room share during waiting times so that none of them were left alone. They talked to my kids and treated them like royalty. They were so patient and kind.

The first day we did paperwork and the brain MRI’s. They had to sedate the kids for the procedure because they are not able to lay still long enough. They did the skin biopsies at the same time so that the kids would still be sedated. The second day, they did the assessments by the doctor, the swallowing evaluation, physical therapy, and occupational therapy. The third day they did the EEG’s.

They said they could do as little or as much as we wanted in a day based on what we felt would be best for our kids and what they were able to tolerate. I was also able to opt out of any procedure that I did not want the kids doing which made me feel more comfortable. We had it spread over three days because we have four kids and it would have made for long days if we tried to do more.

I of course had fears going into it. I didn’t want the kids traumatized and I certainly didn’t want to feel like they were a “research project”. It was actually just the opposite though. They treated the kids with the utmost respect and really did their best to make them comfortable. The only complaint the kids had was having to fast for the MRI sedation! They made up for it with popsicles and Starbucks shakes after they were done! It was a lot of work to get us all up there and to make all of the appointments, but the benefit was well worth it. The research for DRPLA not only brings awareness to the disease but will hopefully find a cure!”

Kerry Mackey

If you are interested in finding more about the study or participating, visit this page or contact us by email (silvia.prades@curedrpla.org).