Metabolic testing in people with vascular Ehlers-Danlos syndrome
Metabolic Phenotyping in Individuals With Vascular Ehlers-Danlos Syndrome (vEDS)
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 |
|---|---|
| Enrollment | 15 (estimated) |
| Ages | 18 Years to 85 Years |
| Sex | All |
| Sponsor | Cambridge University Hospitals NHS Foundation Trust Academic / other |
| Locations | 1 site (Cambridge) |
| Trial ID | NCT07516496 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: There are limited early reports suggesting metabolic and fat-tissue changes in vEDS, but formal metabolic phenotyping in this population is relatively novel.
Eligibility criteria
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 this trial is running
Cambridge
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.