GSD Program

Breaking News:

The U.S. Food and Drug Administration has approved the Glycogen Storage Disease program at UConn Health for the first gene therapy clinical trial for type 1a. UConn Health, along with Connecticut Children’s Medical Center, will coordinate the trials with collaborating centers around the world. Enrollment is expected to begin as soon as May, with data expected later this year.

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Moving On Up!

The mission of the Glycogen Storage Disease (GSD) Program is to pursue research while providing the best evidence-based care for children and adults with the disease.

Program Move
In January 2017, the Glycogen Storage Disease program relocated from the University of Florida (Gainesville) to the University of Connecticut Health in Farmington, CT where it began clinical care and scientific research in affiliation with the Connecticut Children’s Medical Center. The GSD program is the largest of its kind in the world, providing clinical care to patients worldwide with this rare metabolic liver disease. Led by pediatric endocrinologist and scientist Dr. David Weinstein, the majority of the Florida team also made the move to Connecticut with the program. The move was spearheaded by local philanthropists and the Global Center for Glycogen Storage Disease, who were joined by numerous families and donors in generous support of the program.

Clinical Care
Due to the rareness of the glycogen storage diseases and the expertise of the team, patients travel from around the world for clinical care. Patients followed by the program travel to Connecticut from 49 states and 48 countries. The program presently follows over 600 patients with GSD, and over 200 patients already have traveled to Connecticut for therapy.

Current Research

The GSD team is active in both clinical and laboratory research. Murine research is currently being conducted by GSD team members in the laboratory facilities at the University of Connecticut Cell and Genome Sciences building. This research includes the following studies:

  • Gene and cell therapies for GSD Ia and Ib
  • Immune cell studies including neutropenia and neutrophil functions (GSD Ib)
  • Generation and characterization of new mouse models for GSD Type VI and GSD IX
  • Synergistic heterozygosity
  • Relationships between miRNA and liver pathology (adenomas and cancer)

In addition to lab research, a sponsored clinical trial comparing extended release cornstarch (Glycosade) with the current standard of care (Argo cornstarch) is underway. This is an international, multi-site trial, with the bulk of participants being recruited by Connecticut Children’s. Other sites are located in England, the Netherlands, and France.

The GSD Program is the only U.S. representative in the International Study for Glycogen Storage Disease (ISGSD). The vast majority of patients participate in the GSD Natural History Study conducted by the ISGSD to assess how treatment impacts outcomes in these disorders. The program also has a biorepository collecting blood samples from patients with GSD, and these are used to develop new therapies ex-vivo.

The Following Research will be initiated in 2018: Hepatic gene therapy for GSD 1a and pharmaceutical trials for the new lipid-lowering medications for all GSD types are both critical endeavors that have been years in the making and will have significant impact on the GSD community. The National Institutes of Health Recombinant Advisory Committee approved GSD 1a gene therapy trial in June 2017. Prior to commencing the trial, the FDA must approve the protocol and that is set to be finalized this spring of 2018. Other initiatives include whole genome sequencing for patients with no known genetic etiology for GSD and a trial of medications to prevent scarring in the liver.