Notre Dame Identifies New Target for Rare Disease Research
Notre Dame's ultimate goal is to develop a drug to treat GSDIII
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As a subscriber you can listen to articles at work, in the car, or while you work out. Subscribe NowPeter Reisenauer treats his rare disease with two doses of cornstarch each day. It’s a seemingly bizarre remedy, but is evidence of how little research has been devoted to finding therapies for glycogen storage disease type III (GSDIII). Boosted by a gift from the Reisenauer family, the University of Notre Dame is launching a research effort focused on GSDIII. While Peter feels he’s “pretty normal,” he’s hopeful his alma mater will be able to find answers to prevent the potential tragic consequences of the disease—something his family copes with every day.
Peter’s sister, Cayla, was also born with the genetic disease and has a much different life than her brother. When they were small children, they each had to sleep with an IV pump to help manage the disease; when Cayla was three years old, the IV accidentally disconnected in her sleep. She suffered a traumatic brain injury as a result and is now confined to a wheelchair.
“Cayla’s accident really changed everyone’s life in the family. [GSDIII] has affected us greatly in that sense,” says Reisenauer. “I’m hoping a new set of eyes and work done on this might lead to a breakthrough and eventually something that can reduce the impact of the disease.”
Reisenauer says Duke University was researching the disease for some time, but when his family felt the work had stalled, they wanted to help launch a program at Notre Dame’s Warren Family Research Center for Drug Discovery and Development. University leaders believe the center’s researchers are uniquely positioned to forward GSDIII work through Notre Dame’s Boler-Parseghian Center for Rare and Neglected Diseases.
“It’s a long pathway from doing an experiment [to developing a drug], but the Warren Center has experience doing this before,” says Warren Center Acting Director Dr. Richard Taylor. “It’s previously brought a compound into clinical trials for a rare disease called Niemann-Pick Type C, so we think this is something we can do here.”
Taylor says GSDIII is associated with a person’s ability to process glycogen and can cause complications in the liver and muscles. If not discovered and treated early, Taylor says “we’ve seen cases in which people have been severely handicapped.” The only current treatments are dietary adjustments, including relying on cornstarch to maintain normal blood glucose concentrations.
Because Warren Center researchers don’t have expertise in glycogen storage disorders, the university included a handful of Indiana University School of Medicine (IUSM) experts in its strategy to battle GSDIII.
“Being able to support research at IUSM through funds that are in [Notre Dame’s] center—that’s not a very typical model,” says Taylor. “Typically, your budget pays for research at your own institutions, but what we’ve created is an infrastructure that cares more about the project moving forward than necessarily where the dollars are spent.”
Dr. Peter Roach, Dr. Anna Depaoli-Roach and Dr. Thomas Hurley at IUSM Department of Biochemistry and Molecular Biology have expertise in glycogen storage disease type 2 and will lead the early investigation for GSDIII. The outcome of this initial research will help the Warren Center lead the charge toward the ultimate goal of developing a drug to treat GSDIII.
“There are 7,000 rare diseases and the number of drugs for those diseases is well under 1,000. This is an important problem that needs help—that’s what Notre Dame is interested in doing,” says Taylor. “It fits the Catholic mission of the university to work on something of real need in the world.”
“[GSDIII] affects more than just us,” says Reisenauer. “[The donation] is a way to give back directly to Notre Dame and try to help solve an issue we deal with on a daily basis. [Finding a drug] would be great, not only for us, but for others to prevent any kind of tragedy like what happened to my sister.”
Taylor believes the early research at IUSM could produce some answers by mid-summer, and Notre Dame would then move forward with identifying a lead compound. Taylor cautions it’s a long road to develop treatments, but believes the university’s successes in addressing other rare diseases will help light the path.
Taylor says Notre Dame researchers will work to develop a drug that would control glucose levels for people with GSDIII.
Taylor says the university wants to make an impact on GSDIII, which currently has no treatment.