Arginase deficiency
MONDO:0008814Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Also known as: arginase deficiency, argininemia, hyperargininemia, Arg1 deficiency
13 clinical trials for this condition and its sub-types, 10 tagged with Arginase deficiency itself.
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Can a new injection tame the toxic ammonia of urea cycle disorders?
Disease control Recruiting nowThis early-stage trial is evaluating an experimental drug called KRRO-121, given as a shot under the skin, to see if it is safe and tolerable. The study first tests KRRO-121 in healthy adults, then in people with urea cycle disorders—a group of inherited conditions that impair th…
Phase 1/2 • Sponsor: Korro Bio, Inc. • Aim: Disease control
Last updated Oct 10, 2026 00:00 UTC
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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
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New blood test safety check for rare disease drug monitoring
Knowledge-focused Recruiting nowThis study looks at the safety of a special blood test system used to measure arginine levels in people with ARG1 deficiency who are taking the drug Loargys. The test system includes special blood collection tubes that stop the drug from breaking down arginine after the sample is…
Sponsor: Immedica Pharma US Inc • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Coordination of rare diseases at sanford
Recruiting nowThe Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research. Individuals affected by rare diseases, undiagnosed conditions, and disorders of unknown prevalence may voluntarily contribute…
Sponsor: Sanford Health
Last updated Oct 30, 2026 00:00 UTC