Metabolic Phenotyping in vEDS (MPEDS)

Metabolic Phenotyping in Individuals With Vascular Ehlers-Danlos Syndrome (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.

Study Overview

• Status: Recruiting
• Conditions: Vascular Ehlers-Danlos Syndrome; Vascular EDS (vEDS); Vascular Ehlers Danlos Syndrome
• Intervention / Treatment: Other: No intervention, observational

• Study Type: Observational
• Enrollment (Estimated): 15

Contacts and Locations

• Study Contact: Name: Agnieszka Jakubowska, MBBS; Phone Number: +447487602584; Email: aj776@cam.ac.uk

Study Locations

• United Kingdom
  • Cambridge, United Kingdom
    • Recruiting
    • Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.
    • Contact: Agnieszka Jakubowska, MBBS; Phone Number: +447487602584; Email: aj776@cam.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Participants with vascular Ehlers-Danlos syndrome and BMI, age, ethnicity and gender matched controls

Description

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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with COL3A1 mutation; Individuals with confirmed pathogenic or likely pathogenic mutation in COL3A1 gene and confirmed clinical diagnosis of vascular Ehlers-Danlos syndrome	Other: No intervention, observational; There is no intervention
Control group; Control participants matched for age, gender, ethnicity and BMI	Other: No intervention, observational; There is no intervention

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
OGTT-derived free fatty acid suppression test in vEDS vs matched controls	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.	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.	To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.	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.	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.	3 years

Collaborators and Investigators

• Sponsor: Cambridge University Hospitals NHS Foundation Trust
• Collaborators: University of Cambridge

Study record dates

Study Major Dates

• Study Start (Actual): March 5, 2026
• Primary Completion (Estimated): March 4, 2030
• Study Completion (Estimated): April 4, 2031

Study Registration Dates

• First Submitted: April 1, 2026
• First Submitted That Met QC Criteria: April 1, 2026
• First Posted (Actual): April 8, 2026

Study Record Updates

• Last Update Posted (Actual): April 8, 2026
• Last Update Submitted That Met QC Criteria: April 1, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: insulin resistance; partial lipodystrophy; vascular Ehlers Danlos syndrome
• Additional Relevant MeSH Terms: Dissection, Blood Vessel; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Connective Tissue Diseases; Glucose Metabolism Disorders; Hematologic Diseases; Skin Diseases; Congenital Abnormalities; Hyperinsulinism; Hemostatic Disorders; Hemorrhagic Disorders; Skin Diseases, Genetic; Skin Abnormalities; Aneurysm; Collagen Diseases; Aortic Dissection; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Ehlers-Danlos Syndrome; Ehlers-Danlos Syndrome, Type IV; Insulin Resistance; Lipodystrophy, Partial, Acquired
• Other Study ID Numbers: A097523

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No