Rare DiseasesMarfanPedNCT05748314
Marfan Syndrome and Quality of Life of Pediatric Patients
An observational study of Rare Diseases and Pediatric Disorder, run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial summary
The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are: The assessment of quality of life in MFS Italian patients; The impact of phenotypic manifestations on self-image and self-management skills; Stratify… Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Rare Diseases, Pediatric Disorder
- What is being tested?
- Questionnaire
- How many people
- 80 participants
- Where
- 1 siteItaly
- Study dates
- 9 Jan 2023to May 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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Subjects with clinical and/or genetic diagnosis od MFS currently in follow up at Cardiovascular Genetic Centre, IRCCS Policlinico San Donato
Who may be able to join
- Signed informed consent;
- MFS diagnosis according to Revised Ghent criteria (2010);
Who cannot join
- Known cognitive deficits
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Marfan Syndrome: the Impact on the Quality of Life, Phenotypic Manifestations on Self-image and Self-management Skills, as an Index of Adaptation to the Disease in Pediatric Patients
The goal of this observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are:
- The assessment of quality of life in MFS Italian patients;
- The impact of phenotypic manifestations on self-image and self-management skills;
- Stratify patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.
Read the detailed description
In literature, adolescents with MFS experience difficulty in connecting with peers, and are convinced that they would have been more physically attractive without the disease. Additionally, due to physical activity restrictions and orthopedic limitations, these patients reported having difficulty adjusting and participating in educational events.
Data from present study will be able to support clinicians in identifying patients who need psychological support (through parental counseling interviews) aimed at increasing compliance with treatments and adaptation to the disease.
- Conditions
- Rare Diseases, Pediatric Disorder
- Being tested
- Questionnaire
- Keywords
- Quality of Life, Self-identification, Self-care
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnaireOther
KINDL-R; Morisky Medication Adherence Scale;
What is being measured
The primary outcome is the main question the study is designed to answer.
Psychological counseling
Questionnaire to assess psychological support is KINDL-R (Quality of life);
Measured: 12 months
Psychological counseling
Questionnaire to assess psychological support is Multidimensional Self Concept Scale (MSCS)
Measured: 12 months
Psychological counseling
Questionnaire to assess psychological support is Morisky Medication Adherence Scale
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2023
- Study start9 Jan 2023
- Primary completion31 Dec 2026 (estimated)
- Study completionMay 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- 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
- NCT05748314
- Sponsor's protocol ID
- MarfanPed
- Acronym
- MarfanPed
- Status last verified
- Jul 2026
- First submitted
- 26 Jan 2023
- Last updated
- 2 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Marfan Syndrome: the Impact on the Quality of Life, Phenotypic Manifestations on Self-image and Self-management Skills, as an Index of Adaptation to the Disease in Pediatric Patients
- ClinicalTrials.gov ID
- NCT05748314
- Acronym / sponsor ID
- MarfanPed / MarfanPed
- Conditions
- Rare Diseases, Pediatric Disorder
- Keywords
- Quality of Life, Self-identification, Self-care
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Study start
- 9 Jan 2023 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- May 2027 (estimated)
- First posted
- 28 Feb 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 observational study is to learn about the impact of Marfan syndrome (MFS) in paediatric affected subjects. the main questions it aims to answer are:
- The assessment of quality of life in MFS Italian patients;
- The impact of phenotypic manifestations on self-image and self-management skills;
- Stratify patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.
Detailed description
In literature, adolescents with MFS experience difficulty in connecting with peers, and are convinced that they would have been more physically attractive without the disease. Additionally, due to physical activity restrictions and orthopedic limitations, these patients reported having difficulty adjusting and participating in educational events.
Data from present study will be able to support clinicians in identifying patients who need psychological support (through parental counseling interviews) aimed at increasing compliance with treatments and adaptation to the disease.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Subjects with clinical and/or genetic diagnosis od MFS currently in follow up at Cardiovascular Genetic Centre, IRCCS Policlinico San Donato
Key inclusion criteria (2 listed)
- Signed informed consent;
- MFS diagnosis according to Revised Ghent criteria (2010);
Key exclusion criteria (1 listed)
- Known cognitive deficits
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnaireKINDL-R; Morisky Medication Adherence Scale; | Other | – |
Primary outcome
Psychological counseling
Time frame: 12 months
Questionnaire to assess psychological support is KINDL-R (Quality of life);
Psychological counseling
Time frame: 12 months
Questionnaire to assess psychological support is Multidimensional Self Concept Scale (MSCS)
Psychological counseling
Time frame: 12 months
Questionnaire to assess psychological support is Morisky Medication Adherence Scale
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 2 Jul 2026.
- Individual participant dataSharing planned: Undecided
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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. This study is not recruiting at the moment.
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 Pediatric Disorder, 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 1 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: under way, not looking for participants, as of the sponsor's last update on 2 Jul 2026. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Psychological counseling (time frame: 12 months). The study lists 3 primary outcomes in all. 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 2 Jul 2026.