Metabolic testing in people with vascular Ehlers-Danlos syndrome
Official title: Metabolic Phenotyping in Individuals With Vascular Ehlers-Danlos Syndrome (vEDS)
Run by Cambridge University Hospitals NHS Foundation Trust · NCT07516496 · Data updated 2026-11-12
This project will test whether people with vascular Ehlers-Danlos syndrome have problems with how their bodies store and use fat that could lead to insulin resistance or diabetes.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years to 85 Years |
| Sex | All |
| Enrollment | 15 (estimated) |
| Sponsor | Cambridge University Hospitals NHS Foundation Trust Academic / other |
| Locations | 1 site (Cambridge) |
| Status | Recruiting |
| Started | March 5, 2026 |
| Main results expected | March 4, 2030 |
| Study ends | April 4, 2031 |
| Registry record updated | October 28, 2026 |
| Trial ID | NCT07516496 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults over 18 with a pathogenic or likely pathogenic COL3A1 mutation who can give informed consent and are not pregnant, lactating, acutely ill, or taking corticosteroids.
✕Probably not a fit
People who are pregnant or breastfeeding, currently on corticosteroids, acutely unwell, or otherwise meeting exclusion criteria (including some control exclusions) are unlikely to benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational, cross-sectional project will recruit 12–17 adults with genetically confirmed vEDS alongside a group of matched control participants. Participants will undergo detailed metabolic phenotyping using clinical history, laboratory tests, and body-composition measurements to look for differences in fat distribution and metabolic function. The study will compare measures such as insulin sensitivity, blood lipids, and markers of ectopic fat between the vEDS group and controls. Analyses will determine whether characteristic metabolic patterns in COL3A1-related vEDS might explain increased risk of diabetes or cardiovascular disease.
Why it matters
Potential benefit: If successful, the work could reveal metabolic risks in vEDS that enable earlier monitoring and targeted prevention of diabetes and heart disease.
How similar studies have gone: There are limited early reports suggesting metabolic and fat-tissue changes in vEDS, but formal metabolic phenotyping in this population is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
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)
Where it's running
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Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.
Cambridge, United Kingdom Recruiting
Study contacts
- Study coordinator: Agnieszka Jakubowska, MBBS
- Email: aj776@cam.ac.uk
- Phone: +447487602584
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.