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

Rare Diseases Clinical Trial

— FACE  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05702476
• Other study ID #: FACE
• Status: Recruiting
• Start date: January 9, 2023
• Est. completion date: June 2027

Study information

• Verified date: March 2024
• Source: IRCCS Policlinico S. Donato
• Contact: Alessandro Pini, MD
• Phone: +390252774705
• Email: alessandro.pini[@]grupposandonato.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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: 1. To describe the facial morphological features associated with MFS and their evolution over time; 2. To study the association between facial morphology and the features of reference for the diagnosis of MFS.

Description:

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 140
• Est. completion date: June 2027
• Est. primary completion date: June 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Marfan Syndrome
• Rare Diseases
• Syndrome

Locations

Country	Name	City	State
Italy	IRCCS Policlinico San Donato	San Donato Milanese	Lombardia

Sponsors (2)

Lead Sponsor	Collaborator
IRCCS Policlinico S. Donato	University of Milan

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease Progression	Prospective evaluation focused in the craniofacial area in MFS patients	18 months