Not recruitingRare disease

Study on ECUR-506A and ECUR-506D for Male Infants Under 9 Months with Neonatal Onset Ornithine Transcarbamylase Deficiency

Verified siteInvestigationalNo placebo

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What is this trial about?

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

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.

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 assessment
The study begins with an initial assessment to confirm eligibility. This includes a review of medical history and genetic testing results to confirm a diagnosis of ornithine transcarbamylase deficiency (OTC).
The participant's age must be between 24 hours and 7 months, and weight must be between 3.5 kg and 10.0 kg. All age-appropriate vaccinations should have been received.
Step 2
Single dose administration
The participant receives a single intravenous infusion of ECUR-506. This medication contains a virus designed to deliver a gene to the liver cells.
The infusion is administered in a controlled setting to monitor for any immediate reactions.
Step 3
Monitoring and follow-up
Following the infusion, the participant is monitored for treatment-emergent adverse events. This includes regular physical exams, vital signs checks, and blood tests to assess liver function and other safety parameters.
Monitoring continues throughout the 24-week study period, with specific timepoints for assessments as outlined in the study schedule.
Step 4
Long-term follow-up
After completing the initial 24-week study, participants roll over into a long-term follow-up protocol lasting up to 14.5 years.
This phase involves periodic assessments to evaluate the long-term safety and efficacy of the treatment, including the number of hyperammonemic crises and liver function.

Who can join the trial?

11 criteria

The participant must be a male.
The participant must have a gestational age of at least 37 weeks. Gestational age is the time from the start of the mother's last menstrual period to the birth of the baby.
The participant's age at the time of screening must be between 24 hours and 7 months.
The participant must have a genetically confirmed diagnosis of Ornithine Transcarbamylase Deficiency (OTC). This means there must be a documented genetic test result, either before birth or after birth, confirming the condition.
The participant must have severe neonatal OTC, which can be shown by:
- A current or past hyperammonemic crisis. This is a condition where ammonia levels in the blood are very high, which can cause symptoms like extreme tiredness, poor feeding, coma, or seizures, within the first week of life.
- A family history and genetic confirmation of a harmful genetic change related to severe OTC, or the same genetic mutation as a family member who had severe disease starting in the first week of life.
- The participant must currently be receiving treatment that includes dietary protein restriction and scavenger therapy. These are treatments to help manage the condition.
- If the participant was not diagnosed before birth, they must have a biochemical profile consistent with OTC, either currently or within two weeks before screening. This means certain substances in the blood and urine must be at specific levels at the time of diagnosis.
- The participant's parent or legal representative must be able to understand and be willing to sign a consent form approved by an ethics committee. This form gives permission for the participant to join the study, which lasts 24 weeks and includes a follow-up period of 14.5 years.
- The participant must weigh more than 3.5 kg and less than 10.0 kg at the time of screening.
- The participant must have received all vaccinations appropriate for their age.

Who cannot join the trial?

3 criteria

Patients who are not male cannot participate in the study.
Patients who are not within the specified age range cannot participate. The age range is not specified in the provided data, but it is important to check if you fit the required age group.
Patients who are considered part of a vulnerable population may not be eligible. A vulnerable population includes groups who might be at higher risk or have special needs.

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Verified sites

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

Hospital Sant Joan De Deu Barcelona
Verified
Esplugues De Llobregat, Spain
Hospital Universitario 12 De Octubre
Verified
Madrid, Spain

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Investigated drugs

ECUR-506 is an experimental medication being tested for its safety and effectiveness in treating males under 9 months old who have a genetic condition called Ornithine Transcarbamylase (OTC) Deficiency. This medication is given through a single intravenous (IV) administration. The trial aims to determine how well the body tolerates the medication and to observe any potential side effects.

Adeno-Associated Virus Serotype Rh79 Containing The Human Otc Gene

What is already known about the treatment

ECUR-506 – This medication is administered intravenously and is currently being studied in clinical trials for its safety and efficacy. It is specifically targeted for use in males under nine months old with genetically confirmed neonatal onset Ornithine Transcarbamylase (OTC) Deficiency. The main therapeutic indication is to address this rare metabolic disorder. At the molecular level, ECUR-506 is designed to correct the underlying genetic defect causing the deficiency. It falls under the pharmacological classification of gene therapy products.

Investigated diseases

Ornithine Transcarbamylase Deficiency – This is a rare genetic disorder that affects the body's ability to eliminate ammonia, a waste product of protein metabolism. It is caused by a deficiency of the enzyme ornithine transcarbamylase, which is crucial in the urea cycle. As a result, ammonia accumulates in the blood, leading to symptoms such as vomiting, lethargy, and confusion. In severe cases, it can cause neurological issues due to the toxic effects of ammonia on the brain. The condition is typically inherited in an X-linked manner, meaning it is more common in males. Management often involves dietary restrictions and medications to help reduce ammonia levels.