Human gene therapy trials for patients with glycogen storage disease
University of Florida Health researchers are working with a national rare-disease company to bring the first human gene therapy trials to patients with the most common form of glycogen storage disease. Once established, the clinical trials will occur at UF Health, where much of the underlying research has occurred. UF Health is also home to the world’s largest clinical and research programs for glycogen storage disease.
Glycogen storage disease type Ia is a rare condition, occurring in about one in 100,000 people worldwide. The condition affects how sugar is stored and processed in the body after eating. Patients with this form of glycogen storage disease lack an enzyme that allows their bodies to break down and use stored sugar, resulting in low blood sugar and a buildup of glycogen in the liver.
Currently, there are no pharmacological treatments for this condition. The only treatment is for patients to receive precise doses of cornstarch at specific times throughout the day. While the treatment works, it is not ideal for long-term care, said David Weinstein, M.D., a professor of pediatrics in the UF College of Medicine and director of UF’s Glycogen Storage Disease Program.
“Although the treatment works well, it can be difficult for families to adhere to the precise schedule; for example, a missed alarm in the middle of the night could result in a child missing a dose and getting sick,” he said. “Also, even with the treatment, some patients still face complications. It is the goal of the UF GSD Program to ensure that all children and adults with this disease are healthy, and creating new treatments has been a crucial goal for our team.”
In studies of animal models with a naturally occurring, inherited form of GSD Ia similar to the disease in humans, UF researchers showed that gene therapy can correct the faulty enzyme, allowing it to naturally break down and use stored glycogen. Their findings were first reported at an American Society of Gene Therapy meeting in 2009.
Now, Dimension Therapeutics is using this research as the foundation for developing gene therapy for human clinical trials in collaboration with researchers at UF Health.
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Topic world Gene therapy
Genetic diseases once considered untreatable are now at the center of innovative therapeutic approaches. Research and development of gene therapies in biotech and pharma aim to directly correct or replace defective or missing genes to combat disease at the molecular level. This revolutionary approach promises not only to treat symptoms, but to eliminate the cause of the disease itself.
Topic world Gene therapy
Genetic diseases once considered untreatable are now at the center of innovative therapeutic approaches. Research and development of gene therapies in biotech and pharma aim to directly correct or replace defective or missing genes to combat disease at the molecular level. This revolutionary approach promises not only to treat symptoms, but to eliminate the cause of the disease itself.
