Metabolic Phenotyping in vEDS

NCT07516496 | Recruiting

• 1 other identifier: A097523
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

Brief 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)

Keywords

vascular Ehlers Danlos syndrome; insulin resistance; partial lipodystrophy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 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.

  3 years

Study Arms (2)

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

Control group

Control participants matched for age, gender, ethnicity and BMI

Other: No intervention, observational

Interventions

No intervention, observational OTHER

There is no intervention

Control group; Participants with COL3A1 mutation

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• Age over 18 years
• Confirmed pathogenic or likely pathogenic COL3A1 mutation with vascular Ehlers-Danlos syndrome
• Capacity to provide informed consent

You may not qualify if:

• Current corticosteroid use
• Pregnancy or lactation
• Acute illness at the time of assessment
• Current corticosteroid use
• Pregnancy or lactation
• Acute illness at time of assessment
• Confirmed COL3A1 mutation
• Gastrointestinal or bariatric surgery (except cholecystectomy and appendectomy)

Sponsors & Collaborators

• Cambridge University Hospitals NHS Foundation Trust: lead
• University of Cambridge: collaborator

Study Sites (1)

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

Cambridge, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Samples with DNA including human serum and plasma

MeSH Terms

Conditions

Ehlers-Danlos Syndrome, Type IV; Insulin Resistance; Lipodystrophy, Partial, Acquired

Condition Hierarchy (Ancestors)

Aortic Dissection; Dissection, Blood Vessel; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Ehlers-Danlos Syndrome; Hemostatic Disorders; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Hyperinsulinism; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Agnieszka Jakubowska, MBBS

CONTACT

+447487602584; aj776@cam.ac.uk

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Days
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Specialist Registrar in Metabolic Medicine

Study Record Dates

• First Submitted: April 1, 2026
• First Posted: April 8, 2026
• Study Start: March 5, 2026
• Primary Completion (Estimated): March 4, 2030
• Study Completion (Estimated): April 4, 2031
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

GB (1)