RecruitingOBSERVATIONAL

Metabolic Phenotyping in vEDS

This research wants to understand if people with vascular Ehlers-Danlos syndrome (vEDS) have problems with their body's fat tissue. vEDS is a rare genetic condition known for making blood vessels fragile. However, there's a theory it might also affect how the body uses and stores fat, possibly increasing the risk of conditions like insulin resistance (when your body doesn't respond well to insulin) and diabetes. Researchers will compare adults with vEDS to healthy volunteers. All participants will visit Addenbrooke's Hospital for scans (to measure body fat and check the liver), blood tests, and a sugar drink test. Some might also have a small fat sample taken. The main goal is to see if vEDS causes differences in body fat distribution and how sensitive the body is to insulin.

At a glance

Status

Recruiting

Sponsor

Cambridge University Hospitals NHS Foundation Trust

Enrolment target

Start

05 Mar 2026

Estimated completion

04 Apr 2031

Vascular Ehlers-Danlos Syndrome Vascular Ehlers Danlos Syndrome Vascular EDS (vEDS)

What is this study about?

This study is called 'Metabolic Phenotyping in vEDS,' and it's looking into how the bodies of people with vascular Ehlers-Danlos syndrome (vEDS) handle energy, specifically how they store and use fat. vEDS is a rare condition that you're born with, caused by a change in a gene called COL3A1. This gene is important for making a protein that helps give structure to many parts of your body.

While vEDS is mostly known for making blood vessels delicate and fragile, there's growing evidence that it might also affect how your body's fat tissue works. Healthy fat tissue is really important for storing extra energy and sending signals to other parts of your body to keep them healthy. If fat tissue isn't working as it should, fat can build up in places like your liver or muscles. This can lead to problems like high blood sugar, high cholesterol, and a higher chance of developing diabetes or heart disease in the future.

The main purpose of this study is to find out if people with vEDS have differences in how their fat is distributed in their body and how their body reacts to insulin (a hormone that controls blood sugar) compared to people without vEDS. Understanding this better could help doctors provide more targeted care and advice for people living with vEDS in the future.

Key takeaways

This study explores how fat tissue works in people with vEDS.
It aims to see if vEDS affects how the body handles sugar and fat.
Participants will have scans, blood tests, and a sugar drink test at Addenbrooke's Hospital.
A small fat sample is an optional part for some participants.
The study helps researchers better understand vEDS and potential health risks.
It involves one visit and no medication.

Who may be eligible?

To take part in this study, you need to be an adult, aged 18 or over. If you have vEDS, it must be confirmed by a genetic test showing a specific change in the COL3A1 gene. You also need to be able to understand what the study involves and agree to take part freely.

There are some reasons why you might not be able to join. For people with vEDS, you can't be taking certain steroid medications, be pregnant or breastfeeding, or have a serious illness at the time of the study visit. These factors could affect the results.

For healthy volunteers, similar rules apply: no steroid medications, no pregnancy or breastfeeding, and no serious illness. You also can't have the COL3A1 gene change, or have had certain types of stomach or weight-loss surgery (minor surgeries like appendix removal are usually fine). This helps make sure the comparison between the groups is fair.

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 years old or older?
Do you have a genetically confirmed diagnosis of vEDS (if applicable)?
Are you able to understand the study and give your consent?
Are you currently pregnant or breastfeeding (if applicable)?
Are you currently taking steroid medications?
Are you currently very unwell or acutely ill?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll need to visit Addenbrooke's Hospital in Cambridge once. During this visit, we'll do several assessments. You'll have a special type of X-ray called a DEXA scan, which measures your body fat distribution. You'll also have a liver scan, standard blood tests, and an oral glucose tolerance test. This test involves drinking a sugary drink, and then blood samples will be taken before and after to see how your body handles sugar.

For some participants, there's also an option to have a small fat biopsy. This is a procedure where a tiny sample of fat tissue is taken, usually from your tummy, after numbing the area with a local anaesthetic. This allows for a more detailed look at the fat tissue structure. Your participation in the study involves this single visit, and there are no medications involved or follow-up visits required after your single attendance.

Potential risks and benefits

Participating in this study won't directly improve your vEDS condition, but the information we gather could help us understand more about vEDS in the future, potentially leading to better care for others. You might also gain some insights into your own health through the tests. As with any medical procedure, there are minor risks, such as some discomfort from blood tests or the optional fat biopsy, and very small risks from scans. You are free to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.
Verified postcode
Cambridge, United Kingdom· Recruiting

Common questions

What is vEDS?

vEDS (vascular Ehlers-Danlos syndrome) is a rare genetic condition that primarily affects the body's connective tissues, making blood vessels and other organs more fragile.

Why are you studying fat in vEDS?

While vEDS is known for affecting blood vessels, there's early evidence that it might also affect how the body's fat tissue works, potentially increasing the risk of conditions like diabetes.

How long will the study visit take?

We haven't specified the exact duration, but it involves several tests including scans, blood tests, and a sugar drink test, all on a single visit to the hospital.

Do I have to have the fat biopsy?

No, the fat biopsy is optional. You can choose whether or not you'd like to provide this sample for more detailed analysis.

Will I get my test results?

The study description doesn't specifically state whether individual results will be shared, but findings usually contribute to advancing general knowledge about vEDS.

How to find out more

Agnieszka Jakubowska, MBBS

aj776@cam.ac.uk +447487602584 Official trial record

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