WHAT IS GSD1?
Glycogen Storage Disease Type 1 (GSD1) is a rare, genetic metabolic disorder that occurs when a specific enzyme is either missing or not functioning properly. This enzyme is responsible for maintaining the body's blood glucose (sugar) level. Glucose fuels every cell in our body, including brain activity. People affected with GSD1 cannot convert stored glycogen into glucose, and therefore need a constant external source of glucose in order to survive. Hypoglycemia in patients with GSD1 can be life threatening. GSD1 is the most common form Glycogen Storage Disease, affecting 1 in every 100,000 births. READ MORE
The Children's Fund for Glycogen Storage Disease Research is a public not-for-profit 501(c)(3) foundation that aims to make a difference in the lives of children and their families affected by GSD1.
As little as 40 years ago, a child born with GSD1 had very little chance of survival beyond one or two years. Today, thanks to increased awareness, medical advances and generous supporters, children are thriving and a cure is on the horizon.
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News & Events
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Seeking GSD1a (R83C) Patients
RTI Health Solutions is hosting a series of interviews for GSD1a patients with the R83C mutation. The information obtained may be used by a pharmaceutical company developing a new treatment for GSD1a. Interviews are approximately 1 hour and participants will be paid $100 for their time. If interested, please click the image above for more information. -
mRNA Trials
Underway!The first patient in the world received Moderna mRNA trial infusion for GSD1a at UConn Health. -
Investigational
mRNA TreatmentResearch is underway on an investigational mRNA treatment that could potentially correct the cause of GSD1a by teaching the body to break down glycogen. Click below to learn more about the Ba1ance Trial.
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Gene Therapy
UpdateUltragenyx Therapeutics is now in Phase III clinical trials for GSD1a. The first participant recieved the infusion at Uconn Health in January 2022. -
Ultragenyx
Clinical TrialsResearch Opportunity: Click on the photo above to learn how you can participate in the Phase 3 gene therapy clinical trials or the link below to learn more about the study. -
GSD Odyssey
StudyGSD Odyssey, a patient study launched by Ultragenyx, enables someone with GSD to contribute their de-identified medical information to advance research.
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The Children's Fund for
Glycogen Storage Disease Research
20 Sherwood Lane
Cheshire, CT 06410
203.272.CURE (2873)
" ... because every child deserves to be healthy."