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

This study aims to investigate metabolic health in adults with genetically confirmed vEDS and COL3A1 mutations. Participants will attend the Translational Research Facility at Addenbrooke’s Hospital for detailed metabolic assessment. This includes one or two study visits for clinical measurements, fasting blood tests, a standard oral glucose tolerance test to assess how the body handles sugar, and body composition scans such as DEXA and FibroScan. Participants may also choose to provide a small optional adipose tissue biopsy to help researchers study the structure and function of fat tissue.

We are currently recruiting adults with confirmed vascular Ehlers–Danlos syndrome. At a later stage of the study, we will also recruit healthy volunteers to serve as matched control participants so that metabolic measurements can be compared between people with and without vEDS.

The results of this research will help improve understanding of how connective tissue biology may influence metabolic health and whether individuals with vEDS may have previously unrecognised metabolic features.

Status: Open to recruitment.

To join this research study, you must:

• Be a participant with vEDS
• Be aged 18 years or older
• Genetically confirmed pathogenic COL3A1 mutation

Location: Cambridge Clinical Research Centre on Keith Day Road, next to the Addenbrooke’s Treatment Centre, and part of the Cambridge Biomedical Centre.

Find out more
Email: Dr Aggie Jakubowska

Summary Sheet: Participant Information Sheet

 

Institute of Metabolic Science – Metabolic Research Laboratories
University of Cambridge
Level 4, Box 289
Addenbrooke’s Hospital
Cambridge, CB2 0QQ