Not recruitingRare disease

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

Verified siteRegistered drug

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

What is this trial about?

A plain-language summary of the goals, design and what participants do

This study focuses on children under two years of age who have Arginase 1 Deficiency (ARG1-D), a rare genetic condition where the body cannot properly break down an amino acid called arginine. The study will test a medication called pegzilarginase, which is given as an injection under the skin once per week. This medicine is designed to help reduce the high levels of arginine in the blood that occur in people with this condition.

The purpose of this research is to evaluate how well pegzilarginase works in lowering arginine levels in the blood of young children with Arginase 1 Deficiency. The study will also look at how safe the medication is and how the body processes it. The treatment will continue for 12 weeks, during which children will receive weekly injections of pegzilarginase.

Throughout the study, doctors will monitor the children's health through regular check-ups and blood tests. They will track various aspects of the children's development, including their physical abilities and growth. The study will also check how the children's bodies respond to the medication and whether they develop any reactions to the treatment.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Initial treatment phase
You will receive pegzilarginase through subcutaneous injection (injection under the skin)
The treatment will be administered once per week
This phase will continue for 12 weeks
Step 2
Medical monitoring
Your health will be monitored through regular medical check-ups
Blood tests will be performed to measure arginine levels in your blood
Doctors will monitor for any side effects, including reactions at the injection site
Regular physical examinations and heart tests (ECG) will be conducted
Your growth and development will be tracked throughout the study
Step 3
Physical function assessment
Your physical abilities will be evaluated using specific movement tests
These assessments will measure changes in motor function over the 12-week period
The evaluation will be adjusted according to your age and capabilities
Step 4
Blood sample collection
Regular blood samples will be taken to check:
The amount of medication in your blood
Your body's response to the medication
The presence of antibodies (proteins that your body may produce in response to the medication)

Who can join the trial?

9 criteria

Child must be less than 24 months old when parents give consent for participation
check
Child must have a confirmed diagnosis of ARG1-D documented in medical records through at least one of these:
- High levels of arginine in blood plasma
- Genetic testing showing disease-causing variants
- Test showing arginase activity in red blood cells
- Parents or legal guardians must provide written informed consent and agree to follow study requirements
- Child must have at least one blood plasma arginine measurement of 180 µM or higher during the screening period
- check
  Child must be able to:
  - Maintain a stable diet with appropriate protein levels as recommended by the dietitian (within 15% variation)
  - Continue current medications that help remove ammonia from the body, if prescribed
  - Child must weigh more than 8 kilograms due to the amount of blood needed for testing during the study

Who cannot join the trial?

12 criteria

History of allergic reactions to pegzilarginase or similar medications
Previous participation in clinical trials within the last 30 days
Presence of other serious medical conditions that could interfere with the study
Age 24 months or older at the time of enrollment
Current use of medications that could interact with the study drug
Inability to comply with study procedures and visits
Presence of significant liver or kidney problems (as these organs process the medication)
Active infections or fever at the time of enrollment
Known genetic conditions other than Arginase 1 deficiency
History of blood disorders that could affect study results
Unable to provide blood samples for testing
Participation in other treatment programs for Arginase 1 deficiency

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Verified
Medical University Of Graz
Graz, Austria
Verified
Unidade Local De Saúde De Santa Maria, E.P.E.
Lisbon, Portugal

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

Not recruiting

Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

Investigated drugs

Pegzilarginase is a medication given by injection under the skin (subcutaneously) once per week. It is designed to treat a rare genetic condition called Arginase 1 Deficiency (ARG1-D). The medication works by helping to reduce the levels of arginine (an amino acid) in the blood. High levels of arginine can be harmful to patients with ARG1-D. This enzyme replacement therapy aims to help very young children (under 2 years old) who are born with this condition by providing them with a working version of the enzyme they are missing.

PEGZILARGINASE

What is already known about the treatment

Pegzilarginase - A novel enzyme replacement therapy administered through weekly subcutaneous injections, designed to treat Arginase 1 Deficiency (ARG1-D), a rare genetic disorder. This medication works by breaking down excess arginine in the blood, effectively compensating for the missing or dysfunctional arginase 1 enzyme in patients. Currently undergoing Phase 3 clinical trials for patients under 24 months of age, pegzilarginase represents a promising therapeutic approach in the metabolic disease field, specifically targeting the normalization of plasma arginine levels. The drug belongs to the class of enzyme replacement therapies and functions by catalyzing the conversion of arginine to ornithine and urea, helping to manage the accumulation of toxic levels of arginine in the body.

Investigated diseases

Arginase 1 Deficiency (ARG1-D) - A rare genetic disorder affecting the body's ability to break down arginine, an amino acid, due to the lack of a functional arginase 1 enzyme. The condition typically becomes apparent in early childhood, leading to a buildup of arginine and ammonia in the blood. This accumulation can affect various body systems, particularly the nervous system and liver. The disorder causes progressive problems with movement, balance, and coordination. Children with ARG1-D may experience developmental delays and spasticity (tight, stiff muscles).