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Gene-Face link in rare syndromes revealed

NCT ID NCT07360704

Knowledge-focused Sponsor: Andrea Scribante 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study examined 39 children aged 4 to 18 with Marfan or Loeys-Dietz syndromes to see how their genetic differences relate to facial and jaw structure. Researchers used X-rays to measure bone relationships in the face and compared groups based on their specific gene changes. The goal was to help orthodontists better understand and treat these patients.

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

39 people

The number who actually took part.

Started

Jul 2012

Finished

Jul 2021

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

Patients referring for orthodontic consultation from the Unit Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy

Ages

4 to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

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/Loeys-Dietz syndrome; * formal request of parents or legal guardians for orthodontic evaluation; * aged between 4 and 18; * no previous orthopaedic or orthodontic treatment. Exclusion Criteria: * History of craniofacial anomalies (e.g., cleft lip/palate, craniosynostosis) or syndromic conditions other than Marfan/Loeys-Dietz syndrome; * previous orthopaedic or orthodontic treatment; * poor quality cephalograms.

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Conditions

The condition(s) this trial relates to.

Loeys-Dietz syndrome Marfan syndrome

As listed by the trial registrant

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

Loeys-Dietz syndrome Marfan syndrome

Contacts and locations

Locations

  • Unit of Orthodontics and Pediatric Dentistry - Section of Dentistry - Department of Clinical, Surgical, Diagnostic and Pediatrics - University of Pavia

    Pavia, Lombardy, 27100, Italy

More trials for these conditions

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