Dan Brendtro calls it a “but-for-us” project.
Brendtro, an attorney in Sioux Falls, South Dakota is in the midst of a crowdfunding campaign to raise $75,000 before Christmas to fund a Friedreich’s ataxia research project at Sanford Research, part of Sanford Health.
He first learned about FA in the spring of 2013 when his daughter Raena, then 12, was first suspected of having the condition. Her doctor expressed concern about her gait. Six weeks later tests showed she had the rare, progressive, neuromuscular condition. People with FA develop impaired coordination. Over time, their muscles weaken, and they lose strength in their limbs. They can develop, speech, hearing, and vision problems. Many people with FA develop cardiologic problems as the condition enlarges and weakens the heart. They can also develop scoliosis and diabetes.
When a pediatric neurologist at Sanford Children’s Hospital delivered the diagnosis, he explained that there was no treatment or cure. Raena could expect to be in a wheelchair before graduating high school. She was expected to live into her twenties, although people with less severe forms of the disease can life much longer.
Like many parents who learn their children have a progressive rare disease, Brendtro feels the steady ticking of the clock as he seeks to find ways to help his daughter. She had been enrolled in a mid-stage clinical trial, but that drug failed. In September 2016, when she began her sophomore year of high school, Raena did so in a wheelchair.
When he was planning to run a marathon in 2017, he discovered a group was raising money for The Friedreich’s Ataxia Research Alliance and he set a goal of raising $1,000 a mile for FA. As he journeyed deeper into the world of the disease and biomedical research, he also realized $26,000 wouldn’t do much.
He reached out to Sanford Research and told them he wanted to raise money to fund work in FA there. As the administrator who fielded his inquiry explored opportunities, he discovered that Sanford had been involved in a collaboration on some work into FA some years back. The work identified a novel and potentially important connection between frataxin, the deficient protein in FA, and an enzyme it interacts with inside the mitochondria, the powerhouse of the cell.
When the project concluded, there was no follow up to the work. The funding was over and the lead researcher, who was not at Sanford and late in her career, turned to other matters. Peter Vitiello, associate scientist with Sanford Research, who worked on the project, was still there and willing to pick it up.
The research had, for the first time identified that an enzyme known as PRDX3, was a companion of sorts to frataxin. Other research has suggested that PRDX3 may have cardio-protective qualities, which further suggested there may be a potential link in FA.
After discussion without outside experts in the condition, there was value seen in studying the relation between frataxin and PRDX3, and a belief that it might lead to new strategies for combatting the disease.
Brendtro is turned to crowdfunding because he didn’t want to lose the time it would take to get the research funded through a typical grant proposal and review processes. “We do not have time to wait,” he said. “My daughter is not getting any younger at the cell level.”
Brendtro’s The Finish Line Fund is about two-thirds of the way to its goal for the PRDX3 study. Vitiello’s lab is ready to embark on the project once the funding is raised.
“We’re trying to fill a gap that exists in the system for a study that got forgotten, and use a funding mechanism that is not often used for something like this, and be a catalyst for the next step,” Brendtro said.
Within the world of rare diseases, even though there’s no treatment for FA, it has a robust pipeline of drugs relative to other diseases. As of June 2017, there were ten experimental therapies in human clinical trials, according to the Friedreich’s Ataxia Research Alliance. Given that there are of experimental therapies in the clinic, I asked Brendtro why he decided to fund this early research.
“The trick in the last couple of months has been to make sure that my need to do something is not wasted on something that doesn’t need to be done—that isn’t replicative of other people’s work or impeding on someone else’s space where someone is making a great amount of progress,” he said. “You have to temper your urgency with the humility that you are not the first person to think of the importance of Friedrich’s ataxia research. Through mostly luck, we found a gap very early on in our searching that appears to be something that needs to be done that no one else is doing.”
That, for Brendtro, is the “but-for-us.” “But-for-us” is a phrase that friends of his use to describe certain efforts like this research project. “Is this something that would be happening but for us? Right now, I think the answer is “no,” which is a good sign that we’re on the right path.” It’s also a good yardstick to consider for other rare disease families and organizations that are trying to decide what research to fund.
December 12, 2017