A Long-Term Observational Study of Patients With Fucosidosis
This study is a long-term project to understand fucosidosis, a rare genetic condition. Doctors want to learn about its symptoms and how it changes over time. They will collect information from people diagnosed with fucosidosis, but no new medicines or treatments are part of this study—participants will continue with their usual medical care. The information gathered will help researchers understand the condition better, which could lead to better study designs and new treatments in the future. Currently, there isn't an approved treatment for fucosidosis. This study has two parts: looking at past information and collecting new information as time goes on.
At a glance
What is this study about?
Imagine helping doctors piece together a puzzle about a very rare condition called fucosidosis. That's what this study aims to do. It's called an "observational study" because researchers will simply observe and collect information about people who have fucosidosis. They won't be testing new medicines or giving any special treatments; you'll continue with the medical care you normally receive.
The main goal is to understand how fucosidosis develops over time, what its symptoms are, and how it affects people living with it. By gathering this detailed information, researchers hope to get a clearer picture of the disease. This knowledge is really important because it can help them design better studies in the future and work towards finding effective treatments, as there isn't an approved treatment available right now.
The study is divided into two main parts. One part involves looking back at existing medical records and information (retrospective data collection). The other part involves collecting new information from people as they go about their lives (prospective data collection). This comprehensive approach helps researchers get a full understanding of the condition.
Key takeaways
- This is an observational study to learn about fucosidosis.
- No new treatments or medications will be given.
- Information will be collected from existing records and ongoing observations.
- The study aims to improve understanding of fucosidosis for future research and treatments.
- Participation is voluntary and you can withdraw at any time.
Who may be eligible?
To be part of this study, you must have received a confirmed diagnosis of fucosidosis. If you are a parent or caregiver, you must be willing to give permission for the patient to take part.
For the part of the study collecting new information moving forward, you also need to be alive at the time of joining. You wouldn't be able to join if you're already taking part in another study that's testing a new treatment or medicine. Also, if the study doctor feels that participating would be too difficult or unsuitable for you, you might not be able to join.
Everyone, regardless of age or gender, who meets these criteria may be considered. However, if a patient has passed away and their family or caregivers cannot be reached or do not wish to give permission for their historical information to be used, then that information cannot be included in the study.
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 fucosidosis?
- Are you, or the person you care for, currently alive?
- Are you willing to let doctors use your medical information for this study?
- Are you NOT currently in another study testing a new medicine or treatment?
What does participation involve?
If you decide to participate, you won't be given any new medicines or treatments. Instead, the study will involve collecting information from your past medical records (if you agree) and also gathering new information during your regular medical care over time. This process helps doctors understand your condition without changing your current treatment plan. The study will involve looking at up to 57 past records and collecting new information from up to 31 current patients, with many expected to participate in both parts. The exact number of visits or assessments isn't specified, but it's designed to fit with your usual medical care.
Potential risks and benefits
Locations (16)
- Children's Hospital of Orange CountyVerified postcodeOrange, United States· Recruiting
- University of Minnesota HealthVerified postcodeMinneapolis, United States· Not yet recruiting
- Indira Gandhi Institute of Child Health, Department of Pediatric NeurologyVerified postcodeBengaluru, India· Not yet recruiting
- Erasmus University Medical CenterVerified postcodeRotterdam, Netherlands· Not yet recruiting
- La Rabta HospitalVerified postcodeTunis, Tunisia· Not yet recruiting
- National Institute Mongi-Ben Hamida of Neurology of TunisVerified postcodeTunis, Tunisia· Not yet recruiting
- Cukurova University, Faculty of MedicineVerified postcodeAdana, Turkey (Türkiye)· Not yet recruiting
- Istanbul University Cerrahpasa Medical Faculty HospitalVerified postcodeIstanbul, Turkey (Türkiye)· Not yet recruiting
- Marmara University Pendik Training and Research HospitalVerified postcodeIstanbul, Turkey (Türkiye)· Not yet recruiting
- Ege University, Faculty of MedicineVerified postcodeIzmir, Turkey (Türkiye)· Not yet recruiting
- Dokuz Eylül University HospitalVerified postcodeIzmir, Turkey (Türkiye)· Not yet recruiting
- Royal Belfast Hospital for Sick ChildrenVerified postcodeBelfast, United Kingdom· Not yet recruiting
Common questions
What is fucosidosis?
Fucosidosis is a very rare genetic condition that can affect many parts of the body.
Will I get new medicine in this study?
No, this study is about observing the condition, not giving new medicines or treatments.
What information will the study collect?
The study will collect information about your symptoms and how your condition changes over time, from both past records and ongoing observations.
Why is this study important?
It helps doctors learn more about fucosidosis to better understand it and potentially develop treatments in the future.
Can I stop participating if I change my mind?
Yes, you can choose to stop being part of the study at any time, and it won't affect your medical care.
How to find out more
JCR Pharmaceuticals Co., Ltd.
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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