Marfan Syndrome and Quality of Life of Pediatric Patients

NCT ID: NCT05748314

Last Updated: 2025-09-10

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 80 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-01-09
• Study Completion Date: 2026-05-31

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.

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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Interventions

Questionnaire

KINDL-R; Morisky Medication Adherence Scale;

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• Known cognitive deficits

• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

IRCCS Policlinico S. Donato

OTHER

Sponsor Role: lead

Responsible Party

Alessandro Pini

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Alessandro Pini, MD

Role: PRINCIPAL_INVESTIGATOR

Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Locations

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, Italy

Countries

Italy

Other Identifiers

MarfanPed

Identifier Type: -

Identifier Source: org_study_id