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Rare genetic condition may disrupt fat tissue, raising diabetes risk

NCT ID NCT07516496

Knowledge-focused Sponsor: Cambridge University Hospitals NHS Foundation Trust Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at whether people with vascular Ehlers-Danlos syndrome (vEDS), a rare genetic disorder that weakens blood vessels, also have problems with how their body stores and uses fat. Researchers will compare 12-17 adults with vEDS to similar adults without the condition using body scans, blood tests, and a sugar-drink test. The goal is to understand if vEDS affects fat tissue and increases the risk of insulin resistance and diabetes.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 15 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2026

Expected to finish

Apr 2031

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

18 to 85 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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)

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Conditions

The condition(s) this trial relates to.

acquired partial lipodystrophy Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos syndrome, vascular type Insulin Resistance

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Vascular eds (VEDS) Vascular Ehlers-Danlos syndrome

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

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

    RECRUITING

    Cambridge, United Kingdom

More trials for these conditions

Other studies related to the condition(s) this trial covers.