ClinicalTrials.gov record NCT05702476

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 6, 2026

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study uses non-invasive 3D facial imaging to describe facial features linked to Marfan syndrome and to track how they evolve. It includes children and people with a clinical or genetic diagnosis of Marfan syndrome. The study also examines links between facial shape and other diagnostic features of the syndrome.

What it is studying. Whether there are recognizable craniofacial shape features in people with Marfan syndrome, how those features change over time, and whether facial morphology is associated with other diagnostic features of the condition.

What the researchers hope to learn. To describe the facial morphological features associated with Marfan syndrome, to track their progression over time (prospective craniofacial evaluation, up to 18 months), and to study associations between facial morphology and established diagnostic features.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are:

  • To describe the facial morphological features associated with MFS and their evolution over time;
  • To study the association between facial morphology and the features of reference for the diagnosis of MFS.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • White european ethnicity;
  • Signed informed consent;

Exclusion criteria

  • Previous relevant traumas affecting the craniofacial district or maxillofacial surgery;
  • Presence of beard and mustache;
  • Pregnancy

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Marfan syndrome (MFS, OMIM # 154700) is a rare connective tissue disorder caused by mutations in the gene encoding fibrillin-1 glycoprotein (FBN1), involved in the development of microfibrils. Since FBN1 is a constituent of the connective tissue present at a systemic level, mutations in its gene lead to alterations of the connective tissue, even with pleiotropic effects. The clinical manifestations of MFS are heterogeneous and can occur at any time, from neonatal onset to infancy or adolescence. In this sense, the presence of facial dysmorphism could help in early diagnosis of the disease. Considering the craniofacial features, the phenotypic manifestation related to the syndrome MFS are: dolichocephaly, eyelid down-slanting, malar hypoplasia and retrognathia. However, Few studies have so far studied the facial features associated with MFS. Morevoer, there is a gap in the literature for the evaluation of the progression of facial morphology in the pediatric MFS population as well as potential correlations between facial dysmorphism and other manifestations of the disease.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will undergo non-invasive 3D facial imaging and brief clinical assessments focused on the craniofacial area. They will be followed prospectively to observe facial morphology and its evolution, with evaluations over about 18 months. Participation requires signing informed consent; people who are pregnant or have facial hair that would interfere with imaging are excluded per the study criteria.

How the study is structured. A prospective observational (case-only) study: participants receive non-invasive 3D facial scans and are followed over time; there is no experimental treatment or comparison/placebo group.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Marfan syndrome

Clinical trials20 trials listed for Marfan syndromeEvery trial the registry lists for Marfan syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Marfan syndrome researchLatest monthly update: September 2026. Includes: After open aortic repair. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 9, 2023
Primary completion
June 2026 (estimated)
Study completion
June 2027 (estimated)
Target enrollment
140 participants (estimated)
Last updated on registry
Jan 13, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
IRCCS Policlinico S. Donato
Principal investigator
Alessandro Pini, Principal Investigator
IRCCS Policlinico S. Donato
Collaborators
  • University of Milan

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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