ClinicalTrials.gov record NCT07516496

Metabolic Phenotyping in vEDS

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Metabolic Phenotyping in Individuals With Vascular Ehlers-Danlos Syndrome (vEDS)

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age18 years old to 85 years old
SexAll
LocationUnited Kingdom
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study compares adults with genetically confirmed vascular Ehlers-Danlos syndrome (vEDS) to age-, sex-, and BMI-matched controls to study fat distribution and insulin handling. Participants attend a short research visit for body-fat measurement (DEXA), a liver scan, blood tests, and an oral glucose tolerance test; a small fat biopsy is optional. The study plans to enroll about 12–17 people with vEDS and matched controls. It aims to see whether fat tissue and insulin responses differ in people with vEDS.

What it is studying. Whether adults with genetically confirmed vEDS show altered fat distribution and reduced adipose‑tissue insulin sensitivity compared with matched controls, and how these measures relate to blood biomarkers.

What the researchers hope to learn. Compare adipose‑tissue insulin sensitivity using an oral glucose tolerance test (OGTT)-derived free fatty acid suppression index between vEDS and matched controls; describe body‑fat distribution using DEXA (trunk:leg ratio); and examine relationships between adipose insulin sensitivity and blood biomarkers (including leptin, adiponectin, leptin/adiponectin ratio, hs‑CRP, and standard lipids/biochemistry).

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • No intervention, observational

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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)

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Attend a research visit (study contact over up to 2 days) for body-fat measurements (DEXA), a liver scan, blood tests, and a standard oral glucose tolerance test (drink a sugary solution with blood samples taken before and after). Some participants may choose to provide an optional small fat biopsy under local anaesthetic. Results from people with vEDS will be compared with matched control volunteers. No treatment is given; this is an observational study.

How the study is structured. A prospective observational study with two groups: adults with genetically confirmed vEDS and matched control participants. No treatments are given; participants attend study visits for measurements and tests and are followed for study outcomes.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United Kingdom. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on vascular Ehlers-Danlos syndrome

Clinical trials6 trials listed for vascular Ehlers-Danlos syndromeEvery trial the registry lists for vascular Ehlers-Danlos syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in vascular Ehlers-Danlos syndrome researchLatest monthly update: September 2026. Includes: Care coordination. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 5, 2026
Primary completion
Mar 4, 2030 (estimated)
Study completion
Apr 4, 2031 (estimated)
Target enrollment
15 participants (estimated)
Last updated on registry
Apr 8, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Cambridge University Hospitals NHS Foundation Trust
Principal investigator
Agnieszka Jakubowska, Specialist Registrar in Metabolic Medicine
Cambridge University Hospitals NHS Foundation Trust
Collaborators
  • University of Cambridge

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.Recruiting

    Cambridge · United Kingdom

Terms used on this page · explanations by MedicalUpdates.ai

biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
corticosteroid
Steroid medicines, such as prednisone, that reduce inflammation. Studies often require a stable dose at entry or measure whether the study treatment allows the dose to be reduced.
Exclusion criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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