Ornithine translocase deficiency
MONDO:0009393A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.
Also known as: HHH syndrome, ORNT1 deficiency, hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, ornithine carrier deficiency, ornithine translocase deficiency, triple H syndrome, HHH, HHHS
6 clinical trials for this condition and its sub-types, 3 tagged with Ornithine translocase deficiency itself.
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One-Time gene fix could free kids from lifelong diet and meds
Disease control Recruiting nowThis early-phase trial tests a single intravenous dose of a gene editing therapy called LNP.UCD.ABE in 7 children with severe urea cycle disorders. The therapy aims to correct the genetic defect using a lipid nanoparticle to deliver a base editor. The main goal is to check safety…
Phase 1/2 • Sponsor: Rebecca Ahrens-Nicklas • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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New hope for kids with rare metabolic disease: 5-Year trial launches
Disease control Recruiting nowThis study is testing a drug called glycerol phenylbutyrate in 40 Chinese children with urea cycle disorders, a rare genetic condition that causes dangerous ammonia buildup. The drug aims to help control ammonia levels over 5 years. Researchers will monitor safety and effectivene…
Sponsor: Tongji Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
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Simple test could unlock better monitoring for rare metabolic disorders
Diagnosis Recruiting nowThis study is testing a new way to measure how well the urea cycle works in healthy people and in patients with urea cycle disorders (UCDs). Participants receive a safe, non-radioactive tracer, and blood samples are taken over a few hours. The goal is to develop a better tool for…
Sponsor: University Children's Hospital, Zurich • Aim: Diagnosis
Last updated Jun 27, 2026 08:09 UTC
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Brain scans reveal how urea cycle disorder affects driving ability
Knowledge-focused Recruiting nowThis study uses a brain imaging technique called functional near-infrared spectroscopy (fNIRS) to observe brain activity in people with urea cycle disorder (UCD) while they perform driving tasks of varying difficulty. Researchers compare these brain patterns to those of healthy v…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC