Actively Recruiting
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
Eligibility Criteria
You may qualify if you...
- White european ethnicity
- Signed informed consent
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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
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
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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