World’s First Gene Therapy Clinical Trial for Glycogen Storage Disease Approved by FDA

Hartford, Conn—This week, the U.S. Food and Drug Administration approved the world’s first gene therapy clinical trial for Glycogen Storage Disease (GSD).  This ground breaking clinical trial focusing on GSD Type Ia will be hosted by the GSD Program at Connecticut Children’s Medical Center and UConn Health under the direction of leading pediatric endocrinologist and scientist David Weinstein, MD, MMSc.

Patient clinical trials of Weinstein’s gene therapy are expected to start this year in conjunction with the biopharmaceutical company Ultragenyx based in Novato, California. Connecticut Children’s and UConn Health will coordinate the trials with collaborating centers all over the world. Enrollment in the Phase 1/2 study is expected to begin as soon as next month, with data from the first cohort expected later this year.

GSD is a rare genetic childhood disorder with various forms (types 0, Ia, Ib, III, VI, IX, and XI) that impacts the liver’s storage and release of sugar. It affects one out of every 100,000 people. Healthy livers store excess sugar from food for our body’s future energy needs and release it into our bloodstream when we need it as processed sugar enzymes known as glycogen. However, in GSD, the liver fails to breakdown glycogen into glucose causing the body’s blood sugar levels to drop dangerously low, which can lead to seizure or death unless there is a constant intake of glucose in the form of cornstarch. Currently, there are no approved pharmacological therapies.

GSD Type Ia, affecting an estimated 6,000 patients worldwide, is caused by a defective gene for the enzyme glucose-6-phosphatase-α (G6Pase-α) which controls sugar release from the liver.  People with this GSD disease type cannot release glucose from the liver during periods of fasting.  Hypoglycemia in GSD Type Ia patients can be life-threatening, while the accumulation of the complex sugar glycogen in certain organs and tissues can impair the ability of these tissues to function normally. If chronically untreated, patients can develop severe lactic acidosis, liver tumors, kidney failure, and potentially die in infancy or childhood.

The ultimate goal for the gene therapy, according to Weinstein, is to prevent low blood sugars, eliminate the dependence on cornstarch, and give patients normal lives where oversleeping isn’t a worst-case scenario. The gene therapy is administered through a single, dose injection.

“This gene therapy is designed to replace the deficient enzyme in a patient’s liver to improve glucose control and prevent the devastating short and long-term consequences of this disease,” said Dr. Weinstein, Director of the GSD program at Connecticut Children’s and UConn Health.

“It is the next step toward finding a cure, and I am personally excited that the journey towards new treatments for this condition will begin here in Connecticut.”

Weinstein’s GSD program, is a joint venture of Connecticut Children’s and UConn Health. Connecticut Children’s multidisciplinary team provides comprehensive clinical care to patients while UConn School of Medicine is home to the program’s research laboratories. This GSD Program is the largest in the world for the care and treatment of this condition.  Patients with this condition travel to Connecticut Children’s from 49 states and 48 countries for care.

About Connecticut Children’s Medical Center

Connecticut Children’s Medical Center is the only hospital in Connecticut dedicated exclusively to the care of children and is ranked by U.S. News & World Report and Women’s Choice as one of the best children’s hospitals in the nation. With a medical staff of more than 1,000, Connecticut Children’s provides comprehensive, world-class health care in more than 30 pediatric specialties and subspecialties. Connecticut Children’s Medical Center is a not-for-profit organization, which serves as the primary pediatric teaching hospital for the UConn School of Medicine, has a teaching partnership with the Frank H. Netter MD School of Medicine at Quinnipiac University and is a research partner of The Jackson Laboratory. Connecticut Children’s Office for Community Child Health is a national leader in community-based prevention and wellness programs.

About UConn Health

UConn Health is Connecticut’s only public academic medical center. Based on a 206-acre campus in Farmington, UConn Health has a three-part mission: research, teaching and patient care. Home to the UConn School of Medicine, School of Dental Medicine and UConn John Dempsey Hospital with over 5,600 employees supporting nearly 1,000 students, over 650,000 annual patient visits, and innovative scientific research contributing to the advancement of medicine. For more information, visit health.uconn.edu.