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
10 clinical trials for this condition and its sub-types.
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Broader categories
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Promising drug may protect kidneys in kids with rare oxalate disorder
Disease control CompletedThis study tested a monthly injection called nedosiran in 27 children from birth to 11 years old with primary hyperoxaluria, a rare condition that causes harmful oxalate buildup and kidney damage. The goal was to see if the drug safely lowers oxalate levels in the urine. Early re…
Phase: PHASE2 • Sponsor: Dicerna Pharmaceuticals, Inc., a Novo Nordisk company • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 08:02 UTC
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Kidney stone mystery: why some gene carriers get sick and others stay healthy
Knowledge-focused CompletedThis study looks at people who carry one copy of a mutated AGXT gene, which is linked to a rare kidney stone disease. Some carriers develop kidney stones, while others do not. Researchers will compare their urine oxalate levels and lifestyle factors to find out what triggers symp…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC