Ornithine transcarbamoylase deficiency – European Clinical Trials Information Network https://clinicaltrials.eu Bridging Patients with Clinical Trials Fri, 12 Jun 2026 10:36:22 +0000 en-US hourly 1 https://wordpress.org/?v=7.0 https://clinicaltrials.eu/wp-content/uploads/2024/12/cropped-EU_icon-32x32.png Ornithine transcarbamoylase deficiency – European Clinical Trials Information Network https://clinicaltrials.eu 32 32 Study on ECUR-506A and ECUR-506D for Male Infants Under 9 Months with Neonatal Onset Ornithine Transcarbamylase Deficiency https://clinicaltrials.eu/trial/study-on-ecur-506a-and-ecur-506d-for-male-infants-under-9-months-with-neonatal-onset-ornithine-transcarbamylase-deficiency/ Wed, 29 Apr 2026 14:59:53 +0000 https://clinicaltrials.eu/trial/study-on-ecur-506a-and-ecur-506d-for-male-infants-under-9-months-with-neonatal-onset-ornithine-transcarbamylase-deficiency/ This clinical trial is focused on studying a rare genetic condition called Ornithine Transcarbamylase Deficiency (OTC), which affects the body’s ability to eliminate ammonia, a waste product. The study is investigating a treatment called ECUR-506, which is administered through an intravenous infusion. This treatment involves using a special virus, known as an adeno-associated virus serotype rh79, to deliver a healthy version of the human OTC gene into the body. The goal is to see if this can help improve the condition in young male children under 9 months of age who have been genetically confirmed to have neonatal onset OTC deficiency.

The purpose of the study is to evaluate the safety and tolerability of the treatment. Participants will receive a single dose of ECUR-506 and will be monitored for any side effects or changes in their condition. The study will involve regular check-ups, including physical exams, blood tests, and other assessments to ensure the safety of the participants. The study will last for 24 weeks, with the possibility of continuing into a longer follow-up period.

By participating in this study, researchers hope to gather important information about the potential benefits and risks of using ECUR-506 as a treatment for Ornithine Transcarbamylase Deficiency. This could lead to new insights and advancements in managing this challenging condition. The study is open-label, meaning both the researchers and participants will know which treatment is being administered, and it is specifically designed for young male children with this genetic condition.

]]> Study of Avalotcagene Ontaparvovec for Patients Aged 12 and Older with Late-onset Ornithine Transcarbamylase Deficiency https://clinicaltrials.eu/trial/study-of-avalotcagene-ontaparvovec-for-patients-aged-12-and-older-with-late-onset-ornithine-transcarbamylase-deficiency/ Wed, 29 Apr 2026 14:58:54 +0000 https://clinicaltrials.eu/trial/study-of-avalotcagene-ontaparvovec-for-patients-aged-12-and-older-with-late-onset-ornithine-transcarbamylase-deficiency/ This clinical trial is focused on studying a condition known as late-onset Ornithine Transcarbamylase (OTC) deficiency. This is a genetic disorder that affects the body’s ability to eliminate ammonia, a waste product that can be harmful if it builds up in the blood. The study is testing a new treatment called avalotcagene ontaparvovec, which is a type of gene therapy. Gene therapy involves using a virus to deliver a healthy copy of the OTC gene to the patient’s cells, potentially improving the body’s ability to process ammonia.

The purpose of the study is to evaluate how well this gene therapy works in improving the function of the OTC gene and maintaining safe levels of ammonia in the blood. Participants in the study will receive either the gene therapy or a placebo. The study will also involve the use of prednisolone, a medication that helps reduce inflammation, and [1-13C]sodium acetate, which is used as a tracer to help study the body’s metabolism. The study will be conducted over a period of time, with regular check-ups and tests to monitor the participants’ health and the effectiveness of the treatment.

Participants will be monitored for changes in their ammonia levels and overall health. The study aims to determine if the gene therapy can safely and effectively improve the condition of those with late-onset OTC deficiency. This research could potentially lead to new treatment options for individuals with this genetic disorder.

]]> Long-Term Study on the Safety of Avalotcagene Ontaparvovec for Adults with Late-Onset Ornithine Transcarbamylase Deficiency https://clinicaltrials.eu/trial/long-term-study-on-the-safety-of-avalotcagene-ontaparvovec-for-adults-with-late-onset-ornithine-transcarbamylase-deficiency/ Wed, 29 Apr 2026 14:25:07 +0000 https://clinicaltrials.eu/trial/long-term-study-on-the-safety-of-avalotcagene-ontaparvovec-for-adults-with-late-onset-ornithine-transcarbamylase-deficiency/ This clinical trial is focused on studying a condition known as Ornithine Transcarbamylase (OTC) deficiency, which is a rare genetic disorder that affects the body’s ability to eliminate ammonia, a waste product. The study is investigating a treatment called Avalotcagene ontaparvovec, also known by its code name DTX301. This treatment involves a type of gene therapy using a virus to deliver a healthy copy of the OTC gene to the patient’s cells. The virus used in this therapy is a recombinant adeno-associated viral vector, which is designed to be safe and effective in transferring the gene.

The purpose of the study is to evaluate the long-term safety of this gene therapy in adults who have late-onset OTC deficiency. Participants in the study will receive a single dose of the treatment through an intravenous infusion, which means it will be administered directly into the bloodstream. The study will follow participants over an extended period to monitor their health and any changes in their condition. This will help researchers understand how the treatment affects the body over time and whether it can safely reduce the symptoms of OTC deficiency.

Throughout the study, researchers will collect information on any side effects experienced by participants and how these relate to the treatment. They will also measure changes in the levels of ammonia in the blood and the body’s ability to produce urea, a process known as ureagenesis. These measurements will help determine the effectiveness of the treatment in managing OTC deficiency. The study aims to provide valuable insights into the potential of gene therapy as a long-term solution for individuals with this condition.

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