A Global Prospective Observational Registry of Patients With Pompe Disease
This study is collecting important information from people with Pompe disease across the globe. It's looking at how different treatments, like Cipaglucosidase alfa, Miglustat, Alglucosidase alfa, or Avalglucosidase alfa, affect patients' health and daily lives over a long period. The study also includes people who aren't currently receiving treatment for Pompe disease, to understand how the condition develops naturally. Researchers want to track any side effects from treatments, see how effective they are in the real world, and understand their impact on quality of life. This helps doctors and researchers learn more about Pompe disease and its treatments.
At a glance
What is this study about?
This study is like a large, ongoing health record for people with Pompe disease. Researchers around the world are carefully watching and collecting information from many patients. The main goal is to understand how the disease progresses over time, both in people who are receiving treatment and in those who aren't currently being treated. This type of study, called an 'observational registry,' means that doctors will continue to treat patients as they normally would, but will also record details about their health and how they are feeling.
The study is particularly interested in a few key areas. Firstly, it wants to track any side effects or serious health problems that might occur with the different treatments for Pompe disease. This helps to make sure treatments are as safe as possible. Secondly, it aims to see how well these treatments actually work in people's everyday lives, not just in controlled trial settings. This includes looking at how treatments affect a person's overall quality of life and their own reports about how they are feeling.
Finally, by including people who aren't yet treated, the registry will help scientists understand the natural course of Pompe disease. This information is very important for developing new treatments and understanding when and how to best manage the condition. By gathering all this information, doctors and researchers hope to improve care for everyone with Pompe disease in the future.
Key takeaways
- A global study tracking Pompe disease patients over time.
- Compares treated and untreated patients to understand disease progression.
- Aims to learn about treatment safety, effectiveness, and impact on quality of life.
- Helps improve future care for people with Pompe disease.
- Involves collecting health information from your regular medical visits.
Who may be eligible?
To join this study, you must have received a clear diagnosis of Pompe disease. This diagnosis needs to be confirmed by specific tests that show either a lack of a certain enzyme (called GAA) or changes in your genes related to GAA.
The study welcomes people with both types of Pompe disease: LOPD (late-onset) and IOPD (infantile-onset).
You cannot join this study if you are already taking part in another study for a new, experimental Pompe disease treatment, or if you're receiving a treatment not widely available through special access programs.
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.
- Do I have a confirmed diagnosis of Pompe disease (IOPD or LOPD)?
- Has my diagnosis been verified by specific enzyme or gene tests?
- Am I currently receiving standard approved treatments or no treatment for Pompe disease?
- Am I NOT currently taking part in another study for an experimental Pompe disease treatment?
What does participation involve?
If you decide to take part in this registry, you won't be given new treatments as part of the study itself. Instead, your doctors will continue to treat your Pompe disease as they normally would. The study involves collecting information about your health over time by reviewing your medical records during your regular doctor's visits. This might include details about your symptoms, any treatments you are receiving (like Cipaglucosidase alfa, Miglustat, Alglucosidase alfa, or Avalglucosidase alfa), any side effects you experience, and how the disease affects your daily life. The duration of your participation will depend on how long the registry continues and how long your doctor feels it is important to track your information.
Potential risks and benefits
Locations (41)
- University of Arkansas Medical ScienceVerified postcodeLittle Rock, United States· Recruiting
- University of California IrvineVerified postcodeIrvine, United States· Recruiting
- Wolfson Children's HospitalVerified postcodeJacksonville, United States· Recruiting
- Emory UniversityVerified postcodeAtlanta, United States· Recruiting
- Indiana University, IU Health Physicians NeurologyVerified postcodeIndianapolis, United States· Recruiting
- Washington University School of MedicineVerified postcodeSt Louis, United States· Recruiting
- NYU Neurogenetics, NYU Langone Medical CenterVerified postcodeNew York, United States· Recruiting
- Duke University Medical CenterVerified postcodeDurham, United States· Recruiting
- University of Cincinnati Medical CenterVerified postcodeCincinnati, United States· Recruiting
- Cincinnati Children's HospitalVerified postcodeCincinnati, United States· Recruiting
- University of Pennsylvania Perelman Center for Advanced MedicineVerified postcodePhiladelphia, United States· Recruiting
- University of PittsburghVerified postcodePittsburgh, United States· Recruiting
Common questions
What is Pompe disease?
Pompe disease is a rare genetic condition where the body can't properly break down a complex sugar, leading to muscle weakness and other problems.
Will I get a new treatment if I join this study?
No, this study doesn't provide new treatments. You will continue to receive the standard care for your Pompe disease from your doctor.
What does 'observational' mean?
It means doctors will simply observe and record information about your health and how your disease progresses during your regular medical appointments.
Who can participate in this study?
Anyone with a confirmed diagnosis of Pompe disease, either late-onset (LOPD) or infantile-onset (IOPD), can potentially join.
Will my information be kept private?
Yes, all the information collected about you will be handled with strict confidentiality and your identity will be protected.
How to find out more
For Site
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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