Study on the Effects of Avalglucosidase Alfa Enzyme Replacement Therapy in Patients with Pompe Disease

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What is this study about?

This clinical trial is focused on studying Pompe Disease, a rare genetic disorder that affects muscle function. The study will use a treatment called Nexviadyme, which contains the active substance avalglucosidase alfa. This treatment is given as a solution through an infusion, which means it is delivered directly into the bloodstream. The purpose of the study is to understand how this enzyme replacement therapy affects muscle glycogen, a type of sugar stored in muscles, in patients who have not previously received this type of treatment.

Participants in the study will receive the treatment over a period of 12 months. During this time, researchers will monitor changes in the glycogen levels in various muscles, including the hamstring, calf, anterior thigh, and lumbar muscles. The study will also look at changes in the fat content of these muscles and how these changes relate to the participants’ ability to walk and breathe over the course of the study.

The trial aims to provide valuable insights into how enzyme replacement therapy can help manage Pompe Disease by observing changes in muscle glycogen and other related factors. This information could be crucial for improving treatment strategies for individuals living with this condition.

1 joining the trial

Upon joining the trial, you will be confirmed as having Late-onset Pompe Disease through genetic verification. You must be at least 18 years old and have not received enzyme replacement therapy before.

2 initial assessment

An initial assessment will be conducted to measure the glycogen concentration in your muscles, specifically the hamstring muscles. This will serve as a baseline for future comparisons.

3 treatment administration

You will receive Nexviadyme 100 mg, a powder that is mixed to form a solution for infusion. This medication will be administered through an infusion, which is a method of delivering the drug directly into your bloodstream. The frequency and duration of the administration will be determined by the trial protocol.

4 follow-up assessments

Follow-up assessments will be conducted at 3, 6, and 12 months. These assessments will measure changes in the glycogen concentration of your calf, hamstring, anterior thigh, and lumbar muscles. Additionally, changes in the fat-fraction of these muscles will be evaluated.

The assessments will also include correlations between your baseline glycogen levels and changes in your forced vital capacity (FVC), which measures lung function, and the 6-minute walk test (6MWT), which assesses your physical endurance.

5 final assessment

At the end of the 12-month period, a final assessment will be conducted to evaluate the overall changes in your muscle glycogen concentration and other parameters compared to the baseline.

Who Can Join the Study?

Must have a genetic confirmation of Late-onset Pompe Disease. This means a doctor has confirmed you have this specific type of Pompe Disease through genetic testing.
Must be 18 years of age or older.
Must not have received enzyme replacement therapy before. This means you have not been treated with a specific type of medication that replaces missing enzymes in your body.

Who Cannot Join the Study?

Patients who have already received treatment for Pompe Disease cannot participate.
Patients who are not within the specified age range cannot participate. The age range for this study is from 3 to 4 years old.
Patients who are part of a vulnerable population, which means they might need special protection or care, cannot participate.

Where you can join this trial?

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Other Sites

Site Name	City	Country	Status
Rigshospitalet	Copenhagen	Denmark

Trial status

Country	Status	Recruitment Start
Denmark	Recruiting	01.12.2023

Trial locations

Investigated drugs:

Avalglucosidase Alfa

Enzyme Replacement Therapy is a treatment used in this trial to help patients with Pompe Disease. Pompe Disease is a condition where the body lacks a specific enzyme needed to break down glycogen, a type of sugar stored in muscles. This therapy involves giving patients the enzyme they are missing, which helps reduce the buildup of glycogen in their muscles. By doing this, the therapy aims to improve muscle function and reduce symptoms associated with the disease. The trial is focused on understanding how this treatment affects muscle glycogen levels in patients who have not received this therapy before.

Pompe Disease – Pompe Disease is a genetic disorder caused by the buildup of glycogen in the body’s cells. This accumulation occurs due to a deficiency of the enzyme acid alpha-glucosidase, which is responsible for breaking down glycogen into glucose. As glycogen accumulates, it primarily affects muscle tissues, leading to progressive muscle weakness. The disease can manifest at any age, with infantile-onset being more severe and rapidly progressing. In later-onset forms, symptoms may include difficulty walking, respiratory issues, and fatigue. Over time, the muscle weakness can become more pronounced, affecting mobility and respiratory function.

Trial ID:

2023-508000-37-01

Trial Phase:

Therapeutic confirmatory (Phase III)

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Study on the Effects of Avalglucosidase Alfa Enzyme Replacement Therapy in Patients with Pompe Disease

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