Assessing facial features in Marfan syndrome
Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
This study is trying to identify and track the facial features of people with Marfan syndrome to help with earlier diagnosis and understanding of the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 140 (estimated) |
| Sex | All |
| Sponsor | IRCCS Policlinico S. Donato Academic / other |
| Locations | 1 site (San Donato Milanese, Lombardy) |
| Trial ID | NCT05702476 on ClinicalTrials.gov |
What this trial studies
This observational study aims to define the facial morphological features associated with Marfan syndrome (MFS) and track their evolution over time. It will investigate the relationship between these facial characteristics and the diagnostic criteria for MFS. By focusing on the craniofacial features, the study seeks to enhance early diagnosis and understanding of the syndrome's manifestations. The research will involve participants of white European ethnicity who provide informed consent.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals of white European ethnicity diagnosed with Marfan syndrome.
Not a fit: Patients with previous craniofacial trauma or surgery, those with facial hair, or pregnant individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve early diagnosis and management of Marfan syndrome through better understanding of its facial features.
How similar studies have performed: While few studies have explored facial features in Marfan syndrome, this approach is relatively novel and aims to fill a significant gap in the literature.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
San Donato Milanese, Lombardy
- IRCCS Policlinico San Donato — San Donato Milanese, Lombardy, Italy (Recruiting)
Study contacts
- Principal investigator: Alessandro Pini, MD — Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato
- Study coordinator: Alessandro Pini, MD
- Email: alessandro.pini@grupposandonato.it
- Phone: +390252774705
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.