Urea cycle disorder
MONDO:0004739A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
Also known as: disorder of urea cycle metabolism, inborn disorder of urea cycle metabolism and ammonia detoxification, inborn urea cycle disorder, urea cycle disorders, urea cycle metabolism disorder, UCD, disorder of urea cycle metabolism and ammonia detoxification
30 clinical trials for this condition and its sub-types, 14 tagged with Urea cycle disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Urea cycle disorder
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Urea cycle disorder or inherited hyperammonemia 0 trials · 24 incl. sub-types
10 sub-types
- Ornithine carbamoyltransferase deficiency 16 trials
- Arginase deficiency 8 trials
- Argininosuccinic aciduria 4 trials
- Carbamoyl phosphate synthetase I deficiency disease 4 trials
- Citrullinemia type I 4 trials Sub-types →
- Citrin deficiency 3 trials Sub-types →
- Ornithine translocase deficiency 3 trials
- Hyperammonemia due to N-acetylglutamate synthase deficiency 2 trials
- Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 trial
- Hyperinsulinism-hyperammonemia syndrome 1 trial
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Citrullinemia 2 trials · 6 incl. sub-types
2 sub-types
- Citrullinemia type I 4 trials Sub-types →
- Citrin deficiency 3 trials Sub-types →
Most studied deeper sub-types
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Gene therapy for rare liver disease: Long-Term safety check
Disease control OngoingThis study follows 11 adults with late-onset OTC deficiency who received a single dose of gene therapy (DTX301) in an earlier trial. Researchers are checking long-term safety and how well the body makes urea and controls ammonia levels. The goal is to see if the treatment remains…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New shot targets rare liver disorder in early human tests
Disease control OngoingThis early-stage study tests a new drug called CMP-CPS-001 in healthy adults and women who carry a gene for OTC deficiency, a rare liver condition that can cause dangerous ammonia buildup. The main goal is to check the drug's safety and how the body processes it. Participants rec…
Phase 1 • Sponsor: CAMP4 Therapeutics Corporation • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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New study aims to detect liver damage without needles
Knowledge-focused OngoingThis study looks at whether simple blood tests and special scans can detect liver scarring in people with urea cycle disorders. Researchers will enroll 62 participants across five U.S. centers. The goal is to find noninvasive ways to monitor liver health, avoiding the need for li…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC