Alanine glyoxylate aminotransferase deficiency
MONDO:0100278Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.
Also known as: AGXT defect, AGXT deficiency, alanine glyoxylate aminotransferase deficiency
11 clinical trials for this condition and its sub-types, 0 tagged with Alanine glyoxylate aminotransferase deficiency itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Alanine glyoxylate aminotransferase deficiency
-
Primary hyperoxaluria type 1 10 trials
-
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
-
Researchers watch and learn: PH1 study tracks 207 patients over time
Knowledge-focused OngoingThis study follows 207 people with primary hyperoxaluria type 1 (PH1), a rare kidney disease, to see how the condition progresses over time. Researchers are also checking the long-term safety and real-world effectiveness of the drug lumasiran. Participants are not given any new t…
Sponsor: Alnylam Pharmaceuticals • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC