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Scientists probe muscle secrets in rare connective tissue disorders

NCT ID NCT05720923

Knowledge-focused Sponsor: IRCCS Policlinico S. Donato 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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 26, 2026 · Last updated Jun 26, 2026 · Updated 1 time

Summary

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is to compare these measurements with healthy controls to better understand how these rare conditions affect the body.

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 study could reveal how these syndromes affect muscles and tendons, pointing toward better rehabilitation strategies.
What could go wrong
This is a small, early observational study with no treatment being tested. It will not directly lead to a new therapy.

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 65 people

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

Started

Feb 2023

Expected to finish

Jan 2026

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

Primary care clinic

Ages

12 years and older

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: * Diagnosis of Marfan syndrome or Ehlers Danlos syndrome currently in follow-up at Cardiovascular Genetic Centre IRCCS Policlinico San Donato; * Signed informed consent; Exclusion Criteria: * Previous muscle-tendon injuries in the lower and/or upper limbs; * Presence of cardiac pacemaker; * Epilepsia; * Presence neurological disorders or circulatory diseases in the lower limbs; * Pregnancy.

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Conditions

The condition(s) this trial relates to.

Ehlers-Danlos syndrome Fatigue Marfan syndrome Rare Diseases

As listed by the trial registrant

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

Ehlers-Danlos syndrome Marfan syndrome Rare diseases

Contacts and locations

Locations

  • IRCCS Policlinico San Donato

    San Donato Milanese, Lombardy, 20097, Italy

More trials for these conditions

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