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Pompe Disease Registry Protocol

Participate in Pompe Disease study to help future research.

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Phase N/A

Pompe Disease is a rare condition that affects the muscles and is caused by not having enough of a certain enzyme called GAA. This study is a Registry, which is like a big notebook where doctors write down what happens to people with Pompe Disease over time. It helps doctors understand the disease better and find better ways to treat it. The study is observational, meaning doctors just watch and record what happens to you without giving you new treatments. The study will look at people who already have Pompe Disease and keep track of what happens to them in the future. Anyone with a confirmed diagnosis of Pompe Disease can join, which means doctors have checked your blood, skin, or muscle to make sure you have it. There are no exclusion criteria, so anyone with the disease is welcome to participate.

  • **Study Length:** This is a long-term study, so you can be part of it for as long as it runs.
  • **Visits Needed:** You may need to visit the doctor regularly so they can collect information.
  • **Purpose:** Understand the disease better to improve care for people with Pompe Disease.
Study details
    Glycogen Storage Disease Type II
    Pompe Disease

NCT00231400

Genzyme, a Sanofi Company

25 May 2025

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What is a clinical trial?

A clinical trial is a study designed to test specific interventions or treatments' effectiveness and safety, paving the way for new, innovative healthcare solutions.

Why should I take part in a clinical trial?

Participating in a clinical trial provides early access to potentially effective treatments and directly contributes to the healthcare advancements that benefit us all.

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The duration of clinical trials varies. Some trials last weeks, some years, depending on the phase and intention of the trial.

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