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28 HARTFORDBUSINESS.COM | May 9, 2022 A fter more than two decades of research, UConn Health doctors are on the cusp of revolutionizing treatment for patients suffering from Glycogen Storage Disease Type Ia (GSD Ia). GSD is a metabolic disorder caused by an enzyme deficiency where the liver fails to break down glycogen into glucose, causing the body's blood sugar levels to drop. The disorder is devastating, affecting the kidneys and liver along with other serious side effects, including death. Prior to the development of continuous glucose therapy in 1971, GSD was almost always fatal. In 1982, doctors found a treatment through a common kitchen product – cornstarch – which could be administered as a lifesaving therapy as a slow- release form of glucose. Administering the treatment is tedious and requires careful adherence. A GSD patient requires a cornstarch solution every three to four hours or else they risk severe reactions. Glycosade, a "superstarch" approved in 2012, maintains blood sugar levels seven to eight hours. In 2018, Dr. David Weinstein, the then-director of the Glycogen Storage Disease Program at Connecticut Children's and UConn Health, at UConn John Dempsey Hospital administered the world's first investigational gene therapy to a participant with GSD as part of the Phase 1/2 clinical trial. When Weinstein departed UConn Health, Dr. Rebecca Riba- Wolman, director of the Glycogen Storage Disease Program at Connecticut Children's and UConn Health and member of the Division of Pediatric Endocrinology at Connecticut Children's, did not miss a beat in taking over the program and research. "The participants of the Phase 1/2 trial overall have seen a 70 percent decrease in cornstarch needs," Riba-Wolman says. "Some participants who could previously not go more than four hours without cornstarch are now able to last from 12 to 15 hours, significantly changing their lives." In January 2022, the team launched Phase 3, a double blinded trial where participants were split into two groups, with one receiving the investigational product and the other a placebo. Amidst great excitement and nervousness, the researchers administered an IV of the gene therapy to a participant. It was the first such trial for treatment of GSD. The ongoing trial will take two years to complete with data collected and analyzed daily. "I think gene therapy will be amazing. Even a tiny reduction in the overall cornstarch I consume will be life-changing, including less mental stress, less physical stress, and an overall better life," says the participant. For an in-depth story on the study, visit s.uconn.edu/groundbreaking-gsd-clinical-trial. UConn-Developed "Star" Plants of the Northeast Landscape Dr. Rebecca Riba-Wolman, Amber Barry, RN and Stephanie Ruggiero, RN monitor the infusion for the GSD 1a phase 3 trial participant. U C O N N H E A L T H R E S E A R C H A Breakthrough in Gene Therapy research.uconn.edu U C O N N R E S E A R C H A strong partner in Connecticut's future.