Primary hyperoxaluria type 2
MONDO:0009824Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
Also known as: D-glycerate dehydrogenase deficiency, GRHPR primary hyperoxaluria, L-glyceric aciduria, primary hyperoxaluria caused by mutation in GRHPR, primary hyperoxaluria type 2, primary hyperoxaluria type II, HP2, Oxalosis 2
4 clinical trials for this condition and its sub-types.
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New pill targets rosacea inflammation at its source
Disease control Recruiting nowThis study tests an oral medication called remibrutinib for adults with moderate-to-severe papulopustular rosacea, a skin condition causing red bumps and pustules on the face. The drug works by blocking a protein involved in inflammation. Researchers will measure whether it reduc…
Phase: PHASE2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Aug 14, 2026 00:00 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