Fabry Disease Registry & Pregnancy Sub-registry
This study, called the Fabry Registry, is an international program that carefully watches the health of people living with Fabry disease. It's not a clinical trial testing new medicines; instead, it observes how the disease affects people, no matter what treatment they are receiving. The main goals are to learn more about Fabry disease, how it changes over time, and to help doctors develop better ways to care for patients. There's also a special part of the study for pregnant women with Fabry disease, called the Pregnancy Sub-registry, which tracks their health and their babies' health during and after pregnancy to understand the effects of Fabry disease and its treatments. In both parts, patients receive their usual care, and no experimental treatments are given.
At a glance
What is this study about?
Imagine a big, ongoing medical record that helps doctors understand Fabry disease better. That's essentially what the Fabry Registry is. It's a worldwide program that collects information about people who have Fabry disease. The idea is to gather lots of details over time, like how the disease starts, how it changes in different people, and what treatments they receive. This helps medical experts see the bigger picture of Fabry disease, including how it affects women, and helps them figure out the best ways to care for patients.
This isn't a study where you'd be given a new, untested medicine. Instead, it's about observing and recording. You would continue to see your own doctor and receive the care they think is best for you. The information gathered from many patients helps researchers improve their understanding and guides doctors in making recommendations for patient care. It also helps check how safe and effective existing treatments, like Fabrazyme®, are in the long run.
There's also a special part called the Fabry Pregnancy Sub-registry. This is specifically for women with Fabry disease who are pregnant or have been pregnant. It collects details about their pregnancy, birth, and even the baby's health for up to three years after birth. This is very important for understanding how Fabry disease and its treatments might affect pregnancy and newborns. Like the main Registry, it's about observing, not about giving experimental treatments, and all care remains under your doctor's guidance.
Key takeaways
- This is an observation study, not a drug trial.
- It helps doctors understand Fabry disease better.
- It includes a special part for pregnant women with Fabry disease.
- You continue with your regular doctor and treatments.
- Your health information is collected to improve future care.
- You can stop participating at any time without affecting your medical care.
Who may be eligible?
To join the main Fabry Registry, you must have a clear diagnosis of Fabry disease. This means your doctor has confirmed the diagnosis through specific tests, like checking for a particular enzyme activity or a gene change linked to Fabry disease.
If you're a woman with Fabry disease and are pregnant or have been pregnant, you might also be able to join the Fabry Pregnancy Sub-registry. To do so, you first need to be part of the main Fabry Registry.
Good news – there are no reasons that would prevent you from joining either part of this study once you meet the main requirements. All ages and both sexes are welcome in the main registry.
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 you have a confirmed diagnosis of Fabry disease?
- Are you willing to share your routine medical information?
- If you are pregnant or have been pregnant, are you also in the main Fabry Registry?
- Are you willing for information about your pregnancy and/or baby to be tracked?
What does participation involve?
If you decide to take part in this study, you won't be given any new or experimental medications. Instead, your doctors will simply share information about your regular medical check-ups and treatments with the study. This means you'll continue to receive your usual care from your own doctor, just as you do now. The study is about collecting information from your routine visits, not adding extra tests or appointments specifically for the study.
If you join the Pregnancy Sub-registry, information about your medical history, your pregnancy (like how it's progressing), and the birth of your baby would be collected. If you agree, information about your baby's growth and health would also be collected until they are three years old. The total duration of your participation depends on how long you remain under care for Fabry disease and, for the pregnancy part, for up to three years after your baby is born.
Potential risks and benefits
Locations (283)
- University of Alabama Birmingham- Nephrology- Site Number : 840018Verified postcodeBirmingham, United States· Completed
- University of Alabama Birmingham- Nephrology- Site Number : 840073Verified postcodeBirmingham, United States· Recruiting
- Phoenix Children's Hospital- Site Number : 840003Verified postcodePhoenix, United States· Recruiting
- University of Arizona- Site Number : 840015Verified postcodeTucson, United States· Recruiting
- Arkansas Children's Hospital- Site Number : 840109Verified postcodeLittle Rock, United States· Recruiting
- University of Arkansas for Medical Sciences- Site Number : 840113Verified postcodeLittle Rock, United States· Recruiting
- University of California at Irvine- Site Number : 840036Verified postcodeIrvine, United States· Recruiting
- Southern California Permanente Medical Group- Site Number : 840108Verified postcodeLos Angeles, United States· Recruiting
- USC Health Sciences Center Dept of Genetics- Site Number : 840082Verified postcodeLos Angeles, United States· Completed
- UCLA School Of Medicine- Site Number : 840088Verified postcodeLos Angeles, United States· Recruiting
- UCSF Benioff Children's Hospital - Oakland- Site Number : 840029Verified postcodeOakland, United States· Completed
- Children's Hospital of Orange County- Site Number : 840074Verified postcodeOrange, United States· Recruiting
Common questions
What is Fabry disease?
Fabry disease is a rare genetic condition that can affect many parts of the body, causing a range of symptoms.
Will I receive new medicine in this study?
No, this study does not involve giving any new or experimental medicines. You will continue to receive the care your own doctor prescribes.
Why is this study important?
It helps medical experts learn more about Fabry disease, how it affects people over time, and develop better ways to care for patients.
Is my personal information kept private?
Yes, your privacy is a priority. Steps are taken to protect your personal medical information.
Can I leave the study at any time?
Yes, you are free to stop participating in the study at any point, and your decision will not affect your medical care.
How to find out more
Trial Transparency
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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