Arginase deficiency Trials in Disease

Safety and effectiveness study of pegzilarginase weekly injections in children under 2 years old with Arginase 1 Deficiency

This trial is designed specifically for very young children with Arginase 1 Deficiency, a rare genetic condition that prevents the body from properly breaking down an amino acid called arginine. When arginine builds up in the blood, it can cause serious problems with movement, coordination, and development.

Who can participate:

To join this trial, children must meet several requirements. They must be younger than 24 months old when their parents give consent for participation. The child must have a confirmed diagnosis of Arginase 1 Deficiency, documented through medical records showing either high levels of arginine in blood plasma, genetic testing revealing disease-causing variants, or tests showing reduced arginase activity in red blood cells.

Parents or legal guardians must provide written informed consent and agree to follow all study requirements. The child must have at least one blood plasma arginine measurement of 180 µM or higher during the screening period. Additionally, the child must be able to maintain a stable diet with appropriate protein levels as recommended by a dietitian, with no more than 15% variation. If the child is already taking medications that help remove ammonia from the body, they must continue these treatments. Finally, the child must weigh more than 8 kilograms because the study requires regular blood samples for testing.

Who cannot participate:

Children are excluded from this study if they have a history of allergic reactions to pegzilarginase or similar medications. Those who have participated in other clinical trials within the last 30 days cannot join. Children with other serious medical conditions that could interfere with the study, significant liver or kidney problems, or known genetic conditions other than Arginase 1 Deficiency are not eligible. The trial also excludes children who are 24 months or older, those currently using medications that could interact with the study drug, and those with active infections or fever at enrollment. Children who are unable to comply with study procedures and visits, have blood disorders that could affect results, or are participating in other treatment programs for this condition are also excluded.

What the trial involves:

The main goal of this research is to evaluate how well pegzilarginase works in lowering arginine levels in the blood of young children. The study will also examine how safe the medication is and how the body processes it.

During the 12-week treatment period, children will receive weekly injections of pegzilarginase under the skin. Throughout the study, doctors will closely monitor the children's health through regular check-ups and blood tests. They will track arginine levels in the blood, watch for any side effects including reactions at the injection site, and conduct regular physical examinations and heart tests. The children's growth and development will be carefully tracked, and their physical abilities will be evaluated using specific movement tests adjusted for their age and capabilities. Blood samples will be collected regularly to check how much medication is in the blood, how the body responds to it, and whether the body produces antibodies in response to the treatment.

The investigational drug:

Pegzilarginase is an enzyme replacement therapy given by injection under the skin once per week. It works by helping to reduce the levels of arginine in the blood, which build up to harmful levels in patients with this condition. The medication provides a working version of the enzyme that children with Arginase 1 Deficiency are missing, helping their bodies break down arginine into ornithine and urea.