Glycogen Storage Disease Program & Disorders of Hypoglycemia

The Glycogen Storage Disease (GSD) Program & Disorders of Hypoglycemia is a joint program between Connecticut Children’s and the University of Connecticut. Our mission is to pursue research while providing evidence-based care for children with these diseases. The program is staffed by endocrinologists, nurses and dietitians with expertise in GSD and hypoglycemic disorders.

 

What is Glycogen Storage Disease?

Glycogen Storage Disease (GSD) is a group of rare genetic disorders caused by enzyme deficiencies. GSD is generally divided into liver and muscle types. The liver types treated by the GSD Program are 0, Ia, Ib, III, VI, IX, and XI and affect one out of every 100,000 people.

A healthy liver stores glucose from food in the form of glycogen for our body’s future energy needs. When a constant source of energy is not provided to individuals affected by GSD, their liver fails to store or to breakdown glycogen into glucose, causing the body’s blood glucose levels to drop dangerously low, which leads to severe hypoglycemia, seizures, coma, and potentially death.

GSD patients are at high risk for other health conditions related to the body compensating for the liver’s dysfunction by finding alternative energy sources. These harmful complications may include:

  • Kidney stones and kidney failure
  • Anemia
  • Hypertrophic cardiomyopathy
  • Elevated triglycerides
  • High cholesterol
  • Liver tumors (both benign and cancerous)
  • Osteoporosis
  • Inflammatory bowel disease
  • Gout
  • Poor growth
  • Muscular weakness

How We Treat GSD

Continuous glucose therapy prevents hypoglycemia and improves the derangements in the blood caused from the body trying to rectify the low blood glucose. Cornstarch therapy is a slow release form of glucose that allows patients to space feedings every three to four hours. 

Rebecca Riba-Wolman, MD, Clinical Director of Endocrinology and Diabetes, is the lead of the largest collaboration site for the world’s first glycogen storage disease human gene therapy clinical trial. This work was started by David Weinstein, MD, MSc and was launched at University of Connecticut Health center in July 2018—an advance 20 years in the making, and thus has yielded promising results. Dr. Riba-Wolman’s research extends to other forms of hypoglycemic disorders, both acquired and congenital.

 

Early Results of the Gene Therapy Clinical Trial to Treat GSD

  • Positive topline safety and efficacy data from the first, lowest dose cohort of the ongoing Phase 1/2 study of DTX401, an adeno-associated virus (AAV) based gene therapy for the treatment of glycogen storage disease type Ia (GSDIa).
  • A biologic response, reflected by improved glucose control and increased time to hypoglycemia during fasting, was observed in all three patients, with two patients demonstrating a clinically meaningful improvement in time to hypoglycemia during a controlled fasting challenge.
  • In addition to the promising results observed with the controlled fasting challenge, all three patients demonstrated improvement in glucose control throughout the day, and all three patients have been able to decrease their daily cornstarch intake by approximately half.

Meet Our Team

Rebecca Riba-Wolman, MD

Director, Glycogen Storage Disease Program & Disorders of Hypoglycemia | Program Director, Pediatric Endocrinology Fellowship, UConn Health

Emily Germain-Lee, MD

Director, Center for Rare Disease | Head of Academic Affairs and Research, Endocrinology | Director, Center for Rare Bone Disorders | Director, Albright Center | Director, Osteogenesis Imperfecta Center

Karen J. Loechner, MD, PhD

Pediatric Endocrinologist