Glycogen storage disease I
MONDO:0002413Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Also known as: G6P deficiency, GSD due to G6P deficiency, GSD type 1, GSD type I, GSD1, Glycogen Storage Disease Type I, glycogen storage disease I, glycogen storage disease due to G6P deficiency
13 clinical trials for this condition and its sub-types, 10 tagged with Glycogen storage disease I itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Glycogen storage disease I
-
Glycogen storage disease type 1 due to SLC37A4 mutation 0 trials · 3 incl. sub-types
1 sub-type
- Glycogen storage disease Ib 3 trials
-
Glycogen storage disease Id 0 trials
-
New mRNA therapy aims to control blood sugar in rare genetic disease
Disease control OngoingThis early-stage trial tests an mRNA drug called mRNA-3745 in 15 adults and children with glycogen storage disease type 1a (GSD1a), a rare genetic condition that causes dangerously low blood sugar. The drug is given by IV infusion and aims to help the body produce a missing enzym…
Phase 1/2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
-
Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC