NCT05748314

Brief 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 patients according to the need of psychological support. Participants will take part in the study by completing four self-report questionnaires.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
80

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Jan 2023

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 9, 2023

Completed
17 days until next milestone

First Submitted

Initial submission to the registry

January 26, 2023

Completed
1 month until next milestone

First Posted

Study publicly available on registry

February 28, 2023

Completed
2.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2025

Completed
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2026

Completed
Last Updated

September 10, 2025

Status Verified

September 1, 2025

Enrollment Period

3 years

First QC Date

January 26, 2023

Last Update Submit

September 8, 2025

Conditions

Rare DiseasesPediatric Disorder

Keywords

Quality of LifeSelf-identificationSelf-care

Outcome Measures

Primary Outcomes (3)

  • Psychological counseling

    Questionnaire to assess psychological support is KINDL-R (Quality of life);

    12 months

  • Psychological counseling

    Questionnaire to assess psychological support is Multidimensional Self Concept Scale (MSCS)

    12 months

  • Psychological counseling

    Questionnaire to assess psychological support is Morisky Medication Adherence Scale

    12 months

Interventions

QuestionnaireOTHER

KINDL-R; Morisky Medication Adherence Scale;

Eligibility Criteria

AgeUp to 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-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

You may qualify if:

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

You may not qualify if:

  • Known cognitive deficits

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, 20097, Italy

Location

MeSH Terms

Conditions

Rare Diseases

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Data CollectionEpidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Study Officials

  • Alessandro Pini, MD

    Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

January 26, 2023

First Posted

February 28, 2023

Study Start

January 9, 2023

Primary Completion

December 31, 2025

Study Completion

May 1, 2026

Last Updated

September 10, 2025

Record last verified: 2025-09

Locations

IT(1)