Marfan Syndrome and Quality of Life of Pediatric Patients (MarfanPed)

September 8, 2025 updated by: Alessandro Pini, IRCCS Policlinico S. Donato

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

80

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Italy
    • Lombardy
      • San Donato Milanese, Lombardy, Italy, 20097
        • IRCCS Policlinico San Donato

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Subjects with clinical and/or genetic diagnosis od MFS currently in follow up at Cardiovascular Genetic Centre, IRCCS Policlinico San Donato

Description

Inclusion Criteria:

  • Signed informed consent;
  • MFS diagnosis according to Revised Ghent criteria (2010);

Exclusion Criteria:

  • Known cognitive deficits

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Psychological counseling
Time Frame: 12 months
Questionnaire to assess psychological support is KINDL-R (Quality of life);
12 months
Psychological counseling
Time Frame: 12 months
Questionnaire to assess psychological support is Multidimensional Self Concept Scale (MSCS)
12 months
Psychological counseling
Time Frame: 12 months
Questionnaire to assess psychological support is Morisky Medication Adherence Scale
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Policlinico S. Donato

Investigators

  • Principal Investigator: Alessandro Pini, MD, Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 9, 2023

Primary Completion (Estimated)

December 31, 2025

Study Completion (Estimated)

May 1, 2026

Study Registration Dates

First Submitted

January 26, 2023

First Submitted That Met QC Criteria

February 24, 2023

First Posted (Actual)

February 28, 2023

Study Record Updates

Last Update Posted (Estimated)

September 10, 2025

Last Update Submitted That Met QC Criteria

September 8, 2025

Last Verified

September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MarfanPed

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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