Rare DiseasesFACENCT05702476
Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
An observational study of Rare Diseases and Marfan Syndrome, run by IRCCS Policlinico S. Donato at 1 site in Italy.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Marfan Syndrome
- How many people
- 140 participants
- Where
- 1 siteItaly
- Study dates
- 9 Jan 2023to Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with clinical and/or genetic diagnosis of MFS currently in follow-up at Cardiovascular Genetic Cenrte, IRCCS Policlinico San Donato.
Who may be able to join
- White european ethnicity;
- Signed informed consent;
Who cannot join
- Previous relevant traumas affecting the craniofacial district or maxillofacial surgery;
- Presence of beard and mustache;
- Pregnancy
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Policlinico San Donato
San Donato Milanese, Lombardy, 20097
Alessandro Pini, MD, +390252774705, alessandro.pini@grupposandonato.it
About this study
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:
- To describe the facial morphological features associated with MFS and their evolution over time;
- To study the association between facial morphology and the features of reference for the diagnosis of MFS.
Read the 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
- Keywords
- Rare Diseases, Marfan syndrome, Facial features
- Medical subject headings
- Rare Diseases, Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease Progression
Prospective evaluation focused in the craniofacial area in MFS patients
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2023
- Study start9 Jan 2023
- Primary completionJun 2026 (estimated)
- Study completionJun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by IRCCS Policlinico S. DonatoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 140 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Collaborators
- University of Milan
- Responsible party
- Principal investigator, Alessandro Pini, IRCCS Policlinico S. Donato
- Investigators
- Alessandro Pini, MD, Principal investigator, Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05702476
- Sponsor's protocol ID
- FACE
- Acronym
- FACE
- Status last verified
- Jan 2025
- First submitted
- 18 Jan 2023
- Last updated
- 13 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
- ClinicalTrials.gov ID
- NCT05702476
- Acronym / sponsor ID
- FACE / FACE
- Conditions
- Rare Diseases, Marfan Syndrome
- Keywords
- Rare Diseases, Marfan syndrome, Facial features
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 140 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Collaborators
- University of Milan
- Study start
- 9 Jan 2023 (actual)
- Primary completion
- Jun 2026 (estimated)
- Study completion
- Jun 2027 (estimated)
- First posted
- 27 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- To describe the facial morphological features associated with MFS and their evolution over time;
- 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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with clinical and/or genetic diagnosis of MFS currently in follow-up at Cardiovascular Genetic Cenrte, IRCCS Policlinico San Donato.
Key inclusion criteria (2 listed)
- White european ethnicity;
- Signed informed consent;
Key exclusion criteria (3 listed)
- Previous relevant traumas affecting the craniofacial district or maxillofacial surgery;
- Presence of beard and mustache;
- Pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Disease Progression
Time frame: 18 months
Prospective evaluation focused in the craniofacial area in MFS patients
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alessandro Pini, MD principal investigator
Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Marfan Syndrome, run by IRCCS Policlinico S. Donato at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Alessandro Pini, MD (+390252774705, alessandro.pini@grupposandonato.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease Progression (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2025.