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

NCT05702476 | Recruiting

• 1 other identifier: FACE
• Study Type: observational
• Target: 140
• Locations: 1 country
• Sites: 1

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

Conditions

Rare Diseases; Marfan Syndrome

Keywords

Rare Diseases; Marfan syndrome; Facial features

Outcome Measures

Primary Outcomes (1)

• Disease Progression

  Prospective evaluation focused in the craniofacial area in MFS patients

  18 months

Study Arms (2)

MFS Adult patients

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

MFS Paediatric patients

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with clinical and/or genetic diagnosis of MFS currently in follow-up at Cardiovascular Genetic Cenrte, IRCCS Policlinico San Donato.

You may qualify if:

• White european ethnicity;
• Signed informed consent;

You may not qualify if:

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

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• University of Milan: collaborator

Study Sites (1)

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, 20097, Italy

RECRUITING

MeSH Terms

Conditions

Rare Diseases; Marfan Syndrome

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Alessandro Pini, MD

  Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alessandro Pini, MD

CONTACT

+390252774705; alessandro.pini@grupposandonato.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 18, 2023
• First Posted: January 27, 2023
• Study Start: January 9, 2023
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2027
• Last Updated: January 13, 2025

Record last verified: 2025-01

Locations

IT (1)