Phase III Trial Testing Gene Therapy AAVLK03hOTC to Treat Children Up to 16 Years With Ornithine Transcarbamylase Deficiency

What this Trial Is About

Ornithine transcarbamylase deficiency OTCD is a rare inherited liver disorder that prevents the body from maintaining normal ammonia levels, leading to dangerous ammonia buildup in the blood. This condition can cause life-threatening episodes called hyperammonaemic decompensations, which may result in vomiting, movement problems, lethargy, coma, and impaired neurological development in children. Current treatments include drugs to reduce ammonia and low-protein diets, but these do not always prevent these dangerous episodes. Liver transplantation can be life-saving but may be delayed, risking further neurological harm. The trial is testing a gene therapy called AAVLK03hOTC, designed to target the liver and enable production of the missing OTC enzyme. The study involves escalating doses given by intravenous infusion in children from birth to 16 years old, with groups receiving low to high doses and an additional group receiving the dose with the best safety and efficacy balance. This gene therapy aims to help the liver function normally, reduce dangerous ammonia buildups, and act as a bridge to liver transplant. Participants will be closely monitored for safety and effectiveness for at least 12 months after infusion, including tracking any adverse events. Long-term follow-up of up to four years will assess ongoing safety. Researchers will regularly assess ammonia levels, liver function, and overall health to understand the gene therapys impact on managing OTCD. The study is open-label and involves multiple centers, aiming to provide important information on this new treatment option for children with OTCD.

Halting Ornithine Transcarbamylase Deficiency With Recombinant AAV in ChildrEn