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NCT Number: NCT07516496

Metabolic Phenotyping in vEDS

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.

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Key information

Conditions

Vascular Ehlers-Danlos Syndrome Aneurysm Aortic Dissection Cardiovascular Diseases Collagen Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Dissection, Blood Vessel Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Type IV Genetic Diseases, Inborn Glucose Metabolism Disorders Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Hyperinsulinism Insulin Resistance Lipodystrophy, Partial, Acquired Metabolic Diseases Nutritional and Metabolic Diseases Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Vascular Diseases Vascular EDS (vEDS) Vascular Ehlers Danlos Syndrome

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Cambridge, United Kingdom

Location status: Recruiting

Location contact

Agnieszka Jakubowska, MBBS

CONTACT

[email protected]

+447487602584

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

No intervention, observational

Other

There is no intervention

Primary outcomes

  1. OGTT-derived free fatty acid suppression test in vEDS vs matched controls

    Time frame: 3 years

    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.

Secondary outcomes

  1. To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.

    Time frame: 3 years

    To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.

  2. 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

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Agnieszka Jakubowska, MBBS

CONTACT

[email protected]

+447487602584

Sponsors and collaborators

Lead sponsor

Cambridge University Hospitals NHS Foundation Trust

Other

Collaborators

  • University of Cambridge

Registry information

Official study title

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

Acronym: MPEDS

Important dates

Study start
2026
Primary completion
2030
Study completion
2031
First posted
Apr 8, 2026
Registry last updated
Apr 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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