Primary hyperoxaluria

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 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…

This study tests whether giving people a live gut bacterium called Oxalobacter formigenes can lower the amount of oxalate in their urine. High urinary oxalate is a major risk factor for calcium oxalate kidney stones. Forty adults with a history of such stones who lack this bacter…

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 follows people with rare inherited forms of kidney stones and chronic kidney disease, such as primary hyperoxaluria, cystinuria, and Dent disease, to learn how these conditions develop over time. Researchers will measure markers of inflammation in blood and urine and t…

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…

This study collects medical information from people around the world who have one of four rare hereditary kidney stone diseases: primary hyperoxaluria, Dent disease, cystinuria, or APRT deficiency. By gathering data from many patients, researchers hope to better understand how th…

This study aims to find out if people who get calcium oxalate kidney stones absorb more oxalate from food than healthy people. Researchers will compare stone formers and healthy volunteers by having them eat special diets and measuring oxalate in urine, blood, and stool. The goal…

This study aims to find the specific genes and mutations that cause rare, inherited forms of kidney stone disease. Researchers will analyze DNA from up to 6,000 participants to understand how these genetic changes lead to stones. The goal is to use this knowledge to develop bette…