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

NCT ID: NCT05702476

Last Updated: 2025-01-13

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 140 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-01-09
• Study Completion Date: 2027-06-30

Brief 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.

Detailed 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.

Conditions

Rare Diseases; Marfan Syndrome

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

MFS Adult patients

Patients with clinical and/or gentic diagnosis of MFS older than 18 years

No interventions assigned to this group

MFS Paediatric patients

Patients with clinical and/or gentic diagnosis of MFS younger than 18 years

No interventions assigned to this group

Eligibility 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Milan

OTHER

Sponsor Role: collaborator

IRCCS Policlinico S. Donato

OTHER

Sponsor Role: lead

Responsible Party

Alessandro Pini

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Alessandro Pini, MD

Role: PRINCIPAL_INVESTIGATOR

Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Locations

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Alessandro Pini, MD

Role: CONTACT

alessandro.pini@grupposandonato.it

+390252774705

Facility Contacts

Alessandro Pini, MD

Role: primary

alessandro.pini@grupposandonato.it

+390252774705

Other Identifiers

FACE

Identifier Type: -

Identifier Source: org_study_id