Glycogen storage disease type 1 due to SLC37A4 mutation
MONDO:0023258Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
Also known as: G6P translocase deficiency, SLC37A4 glycogen storage disease I, glucose-6-phosphate translocase deficiency, glycogen storage disease I caused by mutation in SLC37A4
4 clinical trials for this condition and its sub-types.
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Broader categories
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Diabetes drug shows promise for rare immune disorder
Disease control TerminatedThis phase 2 trial tests whether empagliflozin, a diabetes drug also known as Jardiance, can help people with glycogen storage disease type Ib (GSD-1b). GSD-1b causes low neutrophil counts, leading to frequent infections and bowel inflammation. The study gives empagliflozin orall…
Phase: PHASE2 • Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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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