Gene therapy for rare newborn metabolic disease

Plain-English translation of NCT06255782 on ClinicalTrials.gov ↗ · Source last updated April 2026 · Translation generated June 2026 · How we translate trials

Phase 1/2 — A combined trial that checks safety and dosing while also starting to look at whether the treatment works.

This is one of the first times this treatment has been tested in people.

What is this trial?

This study is testing a new gene therapy called ECUR-506 for babies with a rare genetic condition called ornithine transcarbamylase (OTC) deficiency. This condition prevents the body from breaking down a toxic protein buildup called ammonia, which can cause serious harm to the brain. The medication uses a specially designed virus to deliver a healthy copy of the missing gene directly into the baby's liver cells, with the goal of fixing the underlying genetic problem with a single treatment.

Right now, babies born with severe OTC deficiency face serious health risks and require lifelong dietary restrictions and medications to manage ammonia levels. This trial exists to see whether a one-time gene therapy approach could potentially repair the genetic cause, offering a new hope for treating this life-threatening condition.

Do you qualify?

You likely qualify if…

you are a male baby between 1 day and 7 months old at the time of screening
you weigh between 3.5 and 13.5 kilograms (roughly 7 to 30 pounds)
you have been diagnosed with severe OTC deficiency through genetic testing
you had a serious ammonia crisis in your first week of life and are currently on protein-restricted diet and ammonia-lowering medications
you are up-to-date with age-appropriate vaccinations
your parent(s) or legal guardian can understand and consent to the study

You likely don't qualify if…

you had a severe lack of oxygen at birth that caused brain injury
you need an urgent liver transplant
you have other significant organ damage or health conditions beyond OTC deficiency
you have been exposed to other gene therapies or gene editing treatments
you have signs of hepatitis A, B, or C infection

What participation looks like

If your baby is enrolled, you will receive one intravenous infusion of the medication—delivered through a small needle into a vein—as a single treatment. Researchers will monitor your baby's ammonia levels, liver function, and overall health to see how well the treatment works and to watch for any side effects. The study involves different dose levels, so your baby may receive a low, intermediate, or high dose depending on when enrollment begins and what researchers learn from earlier participants.

AI-generated summary from trial data · Jun 9, 2026 · Not medical advice

Gene therapy for rare newborn metabolic disease

What is this trial?

Do you qualify?

What participation looks like

Trial locations