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โ† Trials
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Metabolic Phenotyping in vEDS

Recruitingn/aAges 18 Years - 85 YearsAllCambridge University Hospitals NHS Foundation Truโ€ฆ
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In plain words

What the trial is, and whether it could suit you

This research study will investigate whether people with vascular Ehlers-Danlos syndrome (vEDS), a rare inherited condition, have problems with the way their body stores and uses fat (adipose tissue). vEDS is caused by changes in a gene called COL3A1, which makes a protein important for the structure of many tissues. While vEDS is best known for making blood vessels fragile, there is some early evidence that it may also affect fat tissue and increase the risk of problems such as insulin resistance (where the body does not respond properly to insulin) and diabetes. Fat tissue is important for keeping the body healthy. It stores extra energy, but it also sends signals to other organs. If fat tissue cannot expand or work properly, fat can build up in the liver or muscles instead, leading to high blood sugar, high cholesterol, and greater risk of diabetes and heart disease. In this study,

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Age over 18 years * Confirmed pathogenic or likely pathogenic COL3A1 mutation with vascular Ehlers-Danlos syndrome * Capacity to provide informed consent Exclusion Criteria for those with vEDS: * Current corticosteroid use * Pregnancy or lactation * Acute illness at the time of assessment Exclusion criteria for control participants * Current corticosteroid use * Pregnancy or lactation * Acute illness at time of assessment * Confirmed COL3A1 mutation * Gastrointestinal or bariatric surgery (except cholecystectomy and appendectomy)
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What it tests

  • No intervention, observational
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Where

1 site
Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.
Cambridge, United Kingdom
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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