Alanine glyoxylate aminotransferase deficiency

This early-stage trial is testing an experimental gene editing therapy called YOLT-203 in people with primary hyperoxaluria type 1 (PH1), a rare genetic condition that causes the liver to produce too much oxalate, leading to recurrent kidney stones and potential kidney failure. T…

This 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…

This 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…

This 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…

This 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…