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Metabolic Phenotyping in vEDS

NCT07516496 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2026-04-08

No results posted yet for this study

Summary

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.

Conditions

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

Interventions

OTHER

No intervention, observational

There is no intervention

Sponsors & Collaborators

Eligibility

Min Age
18 Years
Max Age
85 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-03-05
Primary Completion
2030-03-04
Completion
2031-04-04

Countries

  • United Kingdom

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07516496 on ClinicalTrials.gov