Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
This research focuses on people with rare inflammatory conditions that cause repeated swelling and pain, or a related problem called AA amyloidosis, which can harm organs. Sometimes, genetic tests show changes that doctors aren't sure are causing the illness. This study aims to find out if these specific gene changes are indeed responsible for the patients' symptoms. We'll collect small blood samples (and sometimes skin samples if needed for your care) to study these gene changes more closely. This will help us understand these complex diseases better, making it easier to diagnose them in the future and hopefully lead to better ways to help patients.
At a glance
What is this study about?
This study explores a group of uncommon conditions called autoinflammatory diseases. People with these diseases can have repeated episodes of inflammation, which means parts of their body become swollen, red, hot, or painful. Another condition we're studying is AA amyloidosis, which can be a serious complication of autoinflammatory diseases and can damage important organs like the kidneys.
Doctors often use genetic tests to help understand these conditions. However, sometimes these tests show changes in a person's genes that doctors aren't sure are actually causing the illness. These are called "Variants of Unknown Significance." This study aims to look more closely at these specific gene changes to see if they are indeed responsible for the symptoms people are experiencing. By understanding this, we hope to improve how these conditions are diagnosed and managed in the future.
This research is being carried out in different hospitals across France, including Tenon Hospital, Versailles Hospital, and Necker Enfants Malades Hospital in Paris. Your participation would help us gain a deeper understanding of these complex and often difficult-to-diagnose conditions, potentially leading to better care for individuals affected by them.
Key takeaways
- The study investigates rare inflammatory conditions and AA amyloidosis.
- It aims to understand if specific gene changes cause these illnesses.
- Participation involves giving small blood samples during routine hospital visits.
- Sometimes, a skin sample may also be taken if needed for your care.
- The research helps improve diagnosis for complex conditions.
- Your decision to join or not will not affect your medical care.
Who may be eligible?
You might be able to join this study if you are over 18 and can give your permission, or if you are under 18 and your parents or guardians give permission. You would need to have an autoinflammatory disease that doctors haven't been able to fully classify yet, or AA amyloidosis with an unknown cause. You also need to be a patient at one of the hospitals involved in the study and weigh more than 15 kilograms.
We are also looking for a group of 'control' patients for comparison. These are people over 18 who can give permission and either have a clearly defined autoinflammatory disease or are healthy volunteers like blood donors or people having cosmetic surgery.
There are some reasons you wouldn't be able to join. For example, if you can't give your own permission, are under legal guardianship, don't speak French, or weigh less than 15 kilograms. You also need to have social security coverage to participate.
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 or older, or is your child under 18 with parental permission?
- Do you have a rare autoinflammatory disease or AA amyloidosis with an unknown cause?
- Are you a patient at Tenon, Versailles, or Necker Enfants Malades Hospital?
- Do you weigh more than 15 kilograms?
- Can you provide your own informed consent, or can your parents/guardians for a child?
- Do you have social security coverage?
What does participation involve?
If you decide to take part, samples will be collected during your regular hospital visits. This means a nurse will take a small blood sample at the same time as any other blood tests you might be having for your usual care. Over a six-month period, the total amount of blood taken for the study won't be more than about 24 ml (less than two tablespoons).
If your autoinflammatory disease affects your skin, and if your doctor feels it's necessary for your care, a small skin sample (biopsy) might also be taken. This would only happen as part of your normal follow-up appointments. There are no additional visits specifically for this study beyond your routine hospital appointments.
Potential risks and benefits
Locations (1)
- Service médecine interne-Hôpital TenonVerified postcodeParis, France· Recruiting
Common questions
What is an 'autoinflammatory disease'?
It's a condition where your body's immune system causes repeated, unexplained swelling and inflammation.
What is AA amyloidosis?
It's a serious condition that can develop from long-term inflammation, leading to a build-up of proteins in organs.
What are 'Variants of Unknown Significance' (VUS)?
These are changes found in genes where doctors aren't sure if they are causing a person's illness or not.
Will I need extra hospital visits for this study?
No, samples will be collected during your usual hospital appointments for your care.
How much blood will be taken?
About 24 ml (less than two tablespoons total) over a six-month period, taken during routine blood tests.
How to find out more
Sophie GEORGIN-LAVIALLE, Professor
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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