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Whole Exome Sequencing of Familial and Pediatric Forms of Vasculitis

The FAMILYVASC study is looking for volunteers to help understand why some people, particularly children and those with family members who also have the condition, develop vasculitis. Vasculitis is a condition where blood vessels become inflamed. We want to find specific genes that might increase the risk of getting vasculitis. To do this, we will collect a saliva sample from participants, which contains DNA. We will then analyse this DNA to look for genetic differences. By finding these genes, we hope to improve our understanding, and eventually, the treatment of vasculitis.

At a glance

Status
Recruiting
Sponsor
Benjamin Terrier
Enrolment target
100
Start
01 Jun 2019
Estimated completion
01 Jun 2029

What is this study about?

Imagine your body's blood vessels are like tiny pipes carrying blood everywhere. Vasculitis is a condition where these pipes get inflamed, or swollen, which can cause problems. It can affect anyone, but sometimes it runs in families or starts in childhood. The FAMILYVASC study is trying to understand why this happens.

Researchers believe that certain genes might play a role in making some people more likely to get vasculitis. Genes are like instruction manuals inside our bodies that tell everything how to work. By studying your genes, especially those of people with vasculitis in their family or who developed it as a child, scientists hope to find these 'risk genes'.

This study is important because if we can identify these genes, it could help doctors understand vasculitis better. This improved understanding could lead to new ways to diagnose it earlier, develop more effective treatments, and potentially even prevent it in the future for others.

Key takeaways

  • The study aims to find genes linked to vasculitis.
  • It focuses on families and children with vasculitis.
  • You just need to provide a saliva sample.
  • No extra appointments or new medications are involved.
  • Your contribution helps advance understanding of vasculitis.

Who may be eligible?

The study is looking for two main groups of people: those who have vasculitis and healthy volunteers.

If you have vasculitis, you can take part if you are an adult or a child, and your vasculitis has been diagnosed following specific medical guidelines. You also need to be able to understand the study information and agree to take part. Even if you are pregnant or breastfeeding, you can still join.

Healthy volunteers, both adults and children, can join if they do not have vasculitis and don't have a close family member (like parents, grandparents, aunts/uncles, or first cousins) who has vasculitis. Just like those with vasculitis, you need to understand the study and agree to participate. Pregnant and breastfeeding women are also welcome.

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.

  1. Do you have vasculitis, or are you a healthy person without it?
  2. Are you able to understand study information and agree to take part?
  3. Do you not have a close family member with vasculitis (if you're a healthy volunteer)?
  4. Are you okay with providing a saliva sample?
Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, it's quite simple. You won't need to take any new medication or have extra doctor's appointments. The main thing you'll be asked to do is provide a sample of your saliva. This is usually done by spitting into a small tube. That's all there is to it! There aren't any follow-up visits or a long duration of participation after you provide your sample.

Potential risks and benefits

Taking part in this study carries very little risk; giving a saliva sample is a simple and quick procedure with no known side effects. The main benefit is knowing you are contributing to important medical research that could help future patients with vasculitis. Finding the genes linked to vasculitis could lead to better understanding and treatments down the line. You have the right to change your mind and withdraw from the study at any time without giving a reason.

Locations (1)

  • Hôpital Cochin - Department of Internal Medicine
    Verified postcode
    Paris, France· Recruiting

Common questions

What is vasculitis?

Vasculitis is a condition where your body's blood vessels become inflamed, or swollen.

What is a gene?

Genes are like instructions in your body that tell everything how to grow and work.

How will you get my genes?

We will get your genes from a small sample of your saliva, which you can provide by spitting into a tube.

Will this study help me directly?

While it won't directly treat your condition, your participation will help doctors understand vasculitis much better for future patients.

Can children take part?

Yes, both children and adults can take part in this study.

How to find out more

Benjamin Terrier, MD, PhD

Always speak to your GP or specialist before deciding to take part in a study.

Interested in taking part?

Register your interest

Share your details and the research team for "Whole Exome Sequencing of Familial and Pediatric Forms of Va…" will contact you if you may be eligible. Always speak to your GP before agreeing to take part.

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