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Gene hunt for EDS: could saliva replace blood tests?

NCT ID NCT03093493

Knowledge-focused Sponsor: Boston University Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study collected blood and saliva from 334 people with Ehlers-Danlos syndrome and their relatives to find genetic differences linked to the condition. Researchers compared DNA from 30 patients and 30 relatives using advanced gene sequencing. The goal was to create a genetic test panel and see if saliva could be used instead of blood for easier testing. No treatment or results were given to participants.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could lead to a genetic test to help diagnose Ehlers-Danlos syndrome more easily.
What could go wrong
This is a small pilot study that only looks at genes, not a treatment. Results are not shared with participants, and it may not lead to a usable test.

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

334 people

The number who actually took part.

Started

Aug 2017

Finished

Apr 2025

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

Medical records from other institutions and clinical notes for visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), , and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports EDS diagnoses.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Children and adults of any age * Both gender * Positive history of hypermobility or other related signs/symptoms of EDS these include among others a history of gastroparesis, orthostatic hypotension and easy bruising in EDS patient group. Exclusion Criteria: * Diagnosed as other metabolic or genetic disorders in EDS suspected subjects.

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Conditions

The condition(s) this trial relates to.

Ehlers-Danlos syndrome hereditary disease

As listed by the trial registrant

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

Ehlers-Danlos syndrome Genetics syndrome

Contacts and locations

Locations

  • Boston Medical Center

    Boston, Massachusetts, 02118, United States

More trials for these conditions

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