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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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
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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 Jun 27, 2026 12:23 UTC