Primary hyperoxaluria type 1
MONDO:0009823A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.
Also known as: AGXT primary hyperoxaluria, PH1, glycolic aciduria, peroxisomal alanine-glyoxylate aminotransferase deficiency, primary hyperoxaluria caused by mutation in AGXT, primary hyperoxaluria type 1, primary hyperoxaluria type I, HP1
10 clinical trials for this condition and its sub-types.
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New hope for rare kidney disease: experimental drug YOLT-203 enters phase 2 trial
Disease control Recruiting nowThis study tests an experimental drug, YOLT-203, in 36 children and adults with primary hyperoxaluria type 1 (PH1), a rare genetic condition that causes painful kidney stones and kidney damage. The goal is to see if a single dose can safely lower oxalate levels in urine and blood…
Phase: PHASE2 • Sponsor: YolTech Therapeutics Co., Ltd • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Gene therapy breakthrough for rare kidney disease enters human trials
Disease control Recruiting nowThis study tests a new gene therapy called ABO-101 for people with Primary Hyperoxaluria Type 1 (PH1), a rare genetic disorder that causes kidney stones and kidney damage. The trial will first test single doses in adults to find the safest dose, then test that dose in children. R…
Phase: PHASE1, PHASE2 • Sponsor: Arbor Biotechnologies • Aim: Disease control
Last updated Jun 27, 2026 09:04 UTC
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New hope for rare kidney disease: drug targets oxalate buildup in severe cases
Disease control Recruiting nowThis phase 2 study tests a drug called nedosiran (DCR-PHXC) in 28 people with primary hyperoxaluria type 1 (PH1) who have severe kidney impairment, with or without dialysis. The goal is to see if the drug safely lowers plasma oxalate levels, which can cause kidney stones and dama…
Phase: PHASE2 • Sponsor: Dicerna Pharmaceuticals, Inc., a Novo Nordisk company • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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Could a biobank unlock secrets of rare kidney stone diseases?
Knowledge-focused Recruiting nowThis study creates a biobank of blood, urine, and tissue samples from people with rare kidney stone diseases—primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease—and their family members. By storing these samples, researchers hope to enable future studies that cou…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jul 24, 2026 00:00 UTC