AuthorisedTherapeutic use (Phase IV)Interventional

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease; Long-term follow-up of patients receiving commercially available Myozyme

This study is about people of all ages who have Pompe disease (also known as glycogen storage disease type II or acid maltase deficiency) and are being treated with a medicine called Myozyme. It's a long-term study that closely watches how the medicine affects their health over time. Researchers are looking at how well muscles work, how breathing changes, and overall well-being, including daily activities, heart health, hearing, and tiredness. They also want to understand the economic impact of the treatment. The main goal is to see how Myozyme helps people live with Pompe disease and to understand its full benefits for patients.

At a glance

Status

Authorised

Phase

Therapeutic use (Phase IV)

Sponsor

Erasmus Universitair Medisch Centrum Rotterdam (Erasmus MC)

Enrolment target

156

Start

16 Dec 2024

Pompe disease / glycogenosis type II / acid maltase deficiency

What is this study about?

This study is all about understanding the long-term effects of a medicine called Myozyme for people who have Pompe disease. Pompe disease is a rare condition where the body can't properly break down a type of sugar, which then builds up and can cause problems, especially in muscles and organs like the heart and lungs.

Myozyme is an 'enzyme replacement therapy' which means it gives your body the enzyme it's missing. This study is described as 'Phase IV', which means the medicine is already available to patients. The researchers want to follow how people are doing over a long period. They're not just looking at one thing; they're checking many aspects of health, including how strong muscles are, how well people can breathe, and how it affects their daily life and energy levels.

Understanding these long-term effects is really important. It helps doctors and patients know what to expect from the treatment over many years. It also helps healthcare systems understand the overall value of the treatment, both for the patient's health and in terms of cost. This kind of research helps ensure that people with Pompe disease receive the best possible care.

Key takeaways

This study tracks the long-term effects of Myozyme for Pompe disease.
It examines muscle strength, breathing, heart health, and quality of life.
Participants must be 18 or older and already receiving Myozyme.
The study helps understand Myozyme's full benefits and economic impact.
It's a 'Phase IV' study, meaning the medicine is already approved and in use.

Who may be eligible?

To be considered for this study, you would need to be an adult, aged 18 years or older. There is no upper age limit, meaning this study includes older adults too. Both men and women are welcome to take part.

You would also need to have been diagnosed with Pompe disease, which might also be called glycogen storage disease type II or acid maltase deficiency. The most important part is that you are already receiving Myozyme treatment.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Do you have Pompe disease (also known as glycogen storage disease type II or acid maltase deficiency)?
Are you currently being treated with Myozyme?
Are you comfortable with long-term follow-up of your health?

Answer every question to see your result.

What does participation involve?

If you take part in this study, you will continue to receive your Myozyme treatment as you normally would. The study involves regular check-ups to see how you are doing over a long period. These check-ups will look at different aspects of your health, such as your muscle strength, how well your lungs are working, and how your heart is doing. You might also be asked about your daily activities, how you're feeling, and if you experience tiredness. The study also measures things like hearing and body composition. The exact number and frequency of these assessments will depend on the study's plan for long-term follow-up, but it's designed to monitor your health without adding many extra tests beyond your usual care.

Potential risks and benefits

Taking part in this study means doctors will be keeping a close eye on your health and how your Myozyme treatment is working over a long period, which could be beneficial for your ongoing care. As Myozyme is already a licensed treatment, there are no new unknown risks from the medication itself in this study. However, some of the assessments might involve small inconveniences or take some of your time. You are always free to decide to leave the study at any point, without it affecting your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
Netherlands

Common questions

What is Pompe disease?

Pompe disease is a rare genetic condition where your body can't make enough of a special enzyme to break down a type of sugar, which then builds up and can cause muscle weakness.

What is Myozyme?

Myozyme is a medicine used to treat Pompe disease. It works by giving your body the missing enzyme to help clear the sugar buildup.

Why is this study being done if Myozyme is already available?

This study wants to learn more about how Myozyme works in patients over many years, looking at its long-term effects on different aspects of health and daily life.

Will I have to take a new medicine if I join?

No, this study is for people already taking Myozyme, so you would continue with your current treatment.

How long will I be in the study?

This is a long-term follow-up study, so it will involve checking on your health over an extended period. The exact duration will be explained by the study team.