Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

This study tests a new gene therapy called BEAM-301 in 36 adults with glycogen storage disease type Ia (GSDIa) who have a specific gene change. The goal is to see if a single dose can safely improve blood sugar control and reduce the need for cornstarch supplements. Participants …

This study aims to see if a home lactate meter and a standard glucose meter give accurate readings compared to lab tests in people with glycogen storage disease types Ia, Ib, and XI. Ten participants will have an 8-hour hospital stay with hourly blood draws and finger-stick tests…

This study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map…

This observational study follows people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. The goal is to track their health and safety for at least 10 years after treatment. No new drugs or treatments are given in this study. It will help re…

This study looks at whether portable lactate monitors (like those used at home) give accurate results for people with glycogen storage disease type Ia. Ten participants will have their lactate and glucose levels measured by finger-stick and by standard lab tests. The goal is to s…