An observational study in Vascular Ehlers-Danlos Syndrome, Vascular Ehlers Danlos Syndrome and Vascular EDS (vEDS), sponsored by Cambridge University Hospitals NHS Foundation Trust. Recruiting at 1 site in United Kingdom. Open to participants aged 18 Years to 85 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-08.
Sponsored by Cambridge University Hospitals NHS Foundation Trust · Observational
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, we will invite 12-17 adults with genetically confirmed vEDS to take part, along with a group of age-, sex-, and weight-matched controls without vEDS. Participants will attend a research visit at Addenbrooke's Hospital, Cambridge. They will have measurements of body fat distribution (using a DEXA scan), a liver scan, blood tests, and a standard oral glucose tolerance test (drinking a sugary drink with blood samples before and after). Some participants may also choose to provide a small fat biopsy under local anaesthetic to allow more detailed analysis of tissue structure.
The main aim is to see whether people with vEDS show changes in fat distribution and insulin sensitivity compared to those without vEDS.
1,959 studies on the registry are indexed under Insulin Resistance; 305 are open to participants now.
This study's planned enrollment of 15 is below the median of 80 across 339 observational studies indexed under Insulin Resistance.
Browse Insulin Resistance studies →Cambridge University Hospitals NHS Foundation Trust is the lead sponsor of 167 studies on the registry; 37 are open to participants now.
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Participants with vascular Ehlers-Danlos syndrome and BMI, age, ethnicity and gender matched controls
Inclusion Criteria:
Exclusion Criteria for those with vEDS:
Exclusion criteria for control participants
Individuals with confirmed pathogenic or likely pathogenic mutation in COL3A1 gene and confirmed clinical diagnosis of vascular Ehlers-Danlos syndrome
Other: No intervention, observational
Control participants matched for age, gender, ethnicity and BMI
Other: No intervention, observational
There is no intervention
OGTT-derived free fatty acid suppression test in vEDS vs matched controls
To compare adipose-tissue insulin sensitivity, quantified by the oral glucose tolerance test (OGTT)-derived free fatty acid (FFA) suppression index, between adults with genetically confirmed vascular Ehlers-Danlos syndrome (vEDS) and age-, sex-, and BMI-matched controls.
Time frame: 3 years
To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.
To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.
Time frame: 3 years
To examine relationships between adipose-tissue insulin sensitivity (OGTT)-derived free fatty acid (FFA) suppression index and biomarkers, including leptin, adiponectin, leptin/adiponectin ratio, hs-CRP, and standard lipids/biochemistry.
To examine relationships between adipose-tissue insulin sensitivity (OGTT)-derived free fatty acid (FFA) suppression index and biomarkers, including leptin, adiponectin, leptin/adiponectin ratio, hs-CRP, and standard lipids/biochemistry.
Time frame: 3 years
Plan to share: Undecided
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Ehlers-Danlos Syndrome, Type IV
Cambridge University Hospitals NHS Foundation Trust