Actively Recruiting

All Genders
ID05702476

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

Led by IRCCS Policlinico S. Donato · Updated on 2025-01-13

140

Participants Needed

1

Research Sites

52 weeks

Total Duration

On this page

Sponsors

I

IRCCS Policlinico S. Donato

Lead Sponsor

U

University of Milan

Collaborating Sponsor

AI-Summary

What this Trial Is About

This research focuses on Marfan syndrome (MFS), a rare connective tissue disorder caused by mutations in the fibrillin-1 gene. It aims to identify and describe the facial features linked to MFS and how these features change over time. The study also explores possible connections between facial shape and key diagnostic signs of MFS, especially in children and adults. The study involves observing patients with MFS, both adults and children, without testing any treatments or interventions. Participants will be grouped based on their age, and their facial morphology will be assessed non-invasively using 3D imaging over an 18-month period. The study will track changes and progression of facial features related to the syndrome. Participants will undergo facial assessments and monitoring to collect data on their facial structure and its development. Researchers will analyze these features alongside other clinical signs of MFS. The main outcome measure is the progression of facial characteristics over 18 months. The study will continue until June 2027, focusing on understanding the disease better through detailed facial morphology evaluation.

CONDITIONS

Brief Title

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

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • White european ethnicity
  • Signed informed consent
Not Eligible

You will not qualify if you...

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

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Monitoring

Duration - 18 months

Participants with Marfan Syndrome have their facial morphology assessed non-invasively over time to study disease progression.

Trial Site Locations

Total: 1 location

1

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, Italy, 20097

Actively Recruiting

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Research Team

A

Alessandro Pini, MD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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