Ornithine carbamoyltransferase deficiency
MONDO:0010703Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.
Also known as: OCT deficiency, OTC deficiency, OTCD, ornithine carbamoyltransferase deficiency, ornithine carbamoyltransferase deficiency disease, ornithine transcarbamylase deficiency, ornithine transcarbamylase deficiency, hyperammonemia due to, valproate sensitivity
20 clinical trials for this condition and its sub-types, 16 tagged with Ornithine carbamoyltransferase deficiency itself.
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Can freezing ovaries before cancer treatment preserve a Child's future fertility?
Disease control Recruiting nowThis trial tests a procedure to remove and freeze ovarian tissue from pre-pubertal children who face cancer treatments that may harm their fertility. The goal is to store the tissue so it can be used later to restore fertility and hormone function. Researchers will follow partici…
Sponsor: Erin Rowell • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Gene therapy trial offers hope for babies with rare, deadly metabolic disease
Disease control Recruiting nowThis study tests a one-time gene therapy called ECUR-506 in baby boys under 9 months old with a severe form of OTC deficiency, a genetic disorder that prevents the body from breaking down ammonia. The goal is to see if the treatment is safe and can reduce dangerous ammonia levels…
Phase 3 • Sponsor: iECURE, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Can a single gene therapy dose keep working for 14 years?
Knowledge-focused Recruiting nowThis study follows people who received an investigational gene therapy in an earlier iECURE trial for a urea cycle disorder, a condition that can cause dangerous ammonia buildup. Researchers will track safety, side effects, and whether the therapy's effects last over up to 14.5 y…
Sponsor: iECURE, Inc. • Aim: Knowledge-focused
Last updated Sep 02, 2026 00:00 UTC
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Eye test could reveal hidden blood vessel damage in heart and kidney patients
Knowledge-focused Recruiting nowThis study uses a quick, painless eye scan (OCT) to see if blood vessels in the eye look different in people with high blood pressure or chronic kidney disease compared to healthy people. Researchers want to learn if these differences improve with treatment. About 150 adults aged…
Sponsor: University of Edinburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:34 UTC