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Study on the Effectiveness and Safety of Avalglucosidase Alfa for Babies with Infantile-Onset Pompe Disease

Verified siteRegistered drugNo 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 disorder known as Glycogen Storage Disease Type II, commonly referred to as Pompe Disease. This condition affects the body's ability to break down glycogen, a stored form of sugar, leading to muscle weakness and other serious health issues. The study is specifically targeting infants with the early-onset form of this disease, known as Infantile-Onset Pompe Disease (IOPD). The treatment being tested is called Avalglucosidase Alfa, which is a type of enzyme replacement therapy. This therapy aims to provide the missing enzyme that helps break down glycogen in the body.

The purpose of the study is to evaluate the effectiveness and safety of Avalglucosidase Alfa in infants who have not previously received treatment for IOPD. Participants in the study will receive the treatment through an intravenous infusion, which means the medication is delivered directly into the bloodstream through a vein. The study will monitor the participants over a period of time to assess their survival and whether they can live without the need for invasive breathing support, such as a ventilator, after 52 weeks of treatment.

Throughout the study, various health indicators will be observed, including changes in heart size, growth measurements like body length and weight, and motor skills development. The study will also track any side effects or reactions to the treatment. The goal is to gather comprehensive data on how Avalglucosidase Alfa impacts the health and development of infants with IOPD, providing valuable insights into the potential benefits and risks of this treatment option.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, the participant is confirmed to have a diagnosis of infantile-onset Pompe disease. This is determined by specific genetic and enzyme tests.

    The participant's immunological status is assessed before enrollment.

  2. Step 2

    Initial assessment

    An initial assessment is conducted to evaluate the participant's heart condition, specifically looking at the left ventricular mass index.

  3. Step 3

    Treatment administration

    The participant receives treatment with avalglucosidase alfa, administered as an intravenous infusion.

    The medication used is Nexviadyme 100 mg powder for concentrate for solution for infusion.

  4. Step 4

    Treatment schedule

    The treatment is administered regularly over a period of 52 weeks.

    The frequency and exact dosage are determined by the study protocol and the participant's specific needs.

  5. Step 5

    Monitoring and evaluation

    Throughout the study, the participant's health is closely monitored.

    Evaluations include checking survival rates, ventilator use, and changes in physical growth and development.

  6. Step 6

    End of study assessment

    At the end of the 52-week period, a comprehensive assessment is conducted.

    The study measures various outcomes, including survival without invasive ventilation and changes in physical health indicators.

Who can join the trial?

4 criteria

  • Participants must have a confirmed diagnosis of **infantile-onset Pompe disease**. This means they need to have specific changes in their genes related to the disease and a proven lack of a certain enzyme from blood, skin, or muscle samples.
  • Participants must have their **CRIM status** known before joining the study. CRIM status refers to whether the body makes a certain protein related to the disease.
  • Participants must have **cardiomyopathy** at the time of diagnosis. This means their heart muscle is affected, and it is measured by something called the **left ventricular mass index (LVMI)**, which should be higher than normal for their age.
  • Parents or legally authorized representatives must be able to provide signed informed consent, which means they understand the study and agree to participate.

Who cannot join the trial?

6 criteria

  • Patients who are older than 6 months of age.
  • Patients who do not have **Glycogen storage disease type II**. This is a condition where the body has trouble breaking down a type of sugar called glycogen.
  • Patients who are not able to follow the study procedures or take the study medication as required.
  • Patients who have any other medical condition that the study doctors think might make it unsafe for them to participate.
  • Patients who are currently participating in another clinical trial.
  • Patients who have had a serious allergic reaction to any of the ingredients in the study medication.
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Investigated drugs

Avalglucosidase Alfa is a medication being studied for its effectiveness and safety in treating young children with Infantile-Onset Pompe Disease (IOPD). This condition is a rare genetic disorder that affects muscle function. The trial aims to see how well this medication helps improve survival and reduces the need for invasive breathing support in children under 6 months old after one year of treatment. Avalglucosidase Alfa is given through an intravenous infusion, which means it is administered directly into the bloodstream.

What is already known about the treatment

Avalglucosidase Alfa – Avalglucosidase Alfa is administered through intravenous infusion and is currently being studied in clinical trials for its effectiveness and safety in treating infantile-onset Pompe disease, a type of glycogen storage disease. This medication is in the investigational stage, with ongoing research to evaluate its impact on survival and ventilator-free survival in young children. It is primarily indicated for patients with Pompe disease, a condition characterized by the buildup of glycogen in the body's cells. Avalglucosidase Alfa works by replacing the deficient enzyme acid alpha-glucosidase, which helps break down glycogen into glucose, thus reducing glycogen accumulation. It is classified as an enzyme replacement therapy.

Investigated diseases

Glycogen Storage Disease Type II – This is a genetic disorder that affects the body's ability to break down glycogen, a stored form of sugar used for energy. It is caused by a deficiency of the enzyme acid alpha-glucosidase, leading to the accumulation of glycogen in the body's cells. This buildup primarily affects muscle tissues, including the heart and skeletal muscles, causing them to function improperly. Symptoms can appear in infancy, childhood, or adulthood, with infantile-onset being the most severe form. In infants, it can lead to muscle weakness, poor muscle tone, and an enlarged heart. As the disease progresses, it can cause difficulties in breathing and movement.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2024-513859-33-00Protocol codeEFC14462Estimated enrolment21 patientsSponsorSanofi-Aventis Recherche & Developpement

sourced from the EU Clinical Trials Register and site verification

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