Vascular Ehlers-Danlos SyndromeMPEDSNCT07516496
Metabolic Phenotyping in vEDS
An observational study of Vascular Ehlers-Danlos Syndrome and Vascular Ehlers Danlos Syndrome, run by Cambridge University Hospitals NHS Foundation Trust at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Vascular Ehlers-Danlos Syndrome, Vascular Ehlers Danlos Syndrome, Vascular EDS (vEDS)
- How many people
- 15 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 5 Mar 2026to 4 Apr 2031
- How long will I take part?
- 2 Days
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Participants with vascular Ehlers-Danlos syndrome and BMI, age, ethnicity and gender matched controls
Who may be able to join
- Age over 18 years
- Confirmed pathogenic or likely pathogenic COL3A1 mutation with vascular Ehlers-Danlos syndrome
- Capacity to provide informed consent
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Translational Research Facility, Cambridge Clinical Research Centre (CCRC), Keith Day Road, Cambridge, CB2 0QQ.
Cambridge
Agnieszka Jakubowska, MBBS, +447487602584, aj776@cam.ac.uk
About this study
Official title: 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.
Read more
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.
- Being tested
- No intervention, observational
- Keywords
- vascular Ehlers Danlos syndrome, insulin resistance, partial lipodystrophy
- Medical subject headings
- Ehlers-Danlos Syndrome, Type IV, Insulin Resistance, Lipodystrophy, Partial, Acquired
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No intervention, observationalOther
There is no intervention
| Study group | Role | What they receive |
|---|---|---|
| Participants with COL3A1 mutation | Individuals with confirmed pathogenic or likely pathogenic mutation in COL3A1 gene and confirmed clinical diagnosis of vascular Ehlers-Danlos syndrome Receives: Other: No intervention, observational | |
| Control group | Control participants matched for age, gender, ethnicity and BMI Receives: Other: No intervention, observational |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 years
Secondary outcomes (2)
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.
Measured: 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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2026
- Study start5 Mar 2026
- Primary completion4 Mar 2030 (estimated)
- Study completion4 Apr 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Vascular Ehlers-Danlos SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 15 participants (estimated)
- Target duration
- 2 Days
Sponsor and investigators
- Lead sponsor
- Cambridge University Hospitals NHS Foundation Trust
- Sponsor type
- University, hospital or other
- Collaborators
- University of Cambridge
- Responsible party
- Principal investigator, Agnieszka Jakubowska, Cambridge University Hospitals NHS Foundation Trust
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07516496
- Sponsor's protocol ID
- A097523
- Acronym
- MPEDS
- Status last verified
- Apr 2026
- First submitted
- 1 Apr 2026
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Phenotyping in Individuals With Vascular Ehlers-Danlos Syndrome (vEDS)
- ClinicalTrials.gov ID
- NCT07516496
- Acronym / sponsor ID
- MPEDS / A097523
- Keywords
- vascular Ehlers Danlos syndrome, insulin resistance, partial lipodystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- Cambridge University Hospitals NHS Foundation TrustUniversity, hospital or other
- Collaborators
- University of Cambridge
- Study start
- 5 Mar 2026 (actual)
- Primary completion
- 4 Mar 2030 (estimated)
- Study completion
- 4 Apr 2031 (estimated)
- First posted
- 8 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 2 Days
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Participants with COL3A1 mutation | – | Other: No intervention, observationalIndividuals with confirmed pathogenic or likely pathogenic mutation in COL3A1 gene and confirmed clinical diagnosis of vascular Ehlers-Danlos syndrome |
| Control group | – | Other: No intervention, observationalControl participants matched for age, gender, ethnicity and BMI |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Participants with vascular Ehlers-Danlos syndrome and BMI, age, ethnicity and gender matched controls
Key inclusion criteria (3 listed)
- Age over 18 years
- Confirmed pathogenic or likely pathogenic COL3A1 mutation with vascular Ehlers-Danlos syndrome
- Capacity to provide informed consent
Key exclusion criteria (8 listed)
- Current corticosteroid use
- Pregnancy or lactation
- Acute illness at the time of assessment
- Current corticosteroid use
- Pregnancy or lactation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention, observationalThere is no intervention | Other | Control group, Participants with COL3A1 mutation |
Primary outcome
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.
2 secondary outcomes
To describe body-fat distribution (using DEXA trunk and leg fat; trunk:leg ratio) and compare profiles between groups.
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.
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Vascular Ehlers-Danlos Syndrome and Vascular Ehlers Danlos Syndrome, run by Cambridge University Hospitals NHS Foundation Trust at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Agnieszka Jakubowska, MBBS (+447487602584, aj776@cam.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
OGTT-derived free fatty acid suppression test in vEDS vs matched controls (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2026; AzTrials last refreshed its copy on 27 Oct 2026.