NCT05748314

Marfan Syndrome and Quality of Life of Pediatric Patients

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

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 80 (estimated)
• Sponsor: IRCCS Policlinico S. Donato · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Interventions

Type	Name	Description
OTHER	Questionnaire	KINDL-R; Morisky Medication Adherence Scale;

Timeline

• Start date: 2023-01-09
• Primary completion: 2025-12-31
• Completion: 2026-05-01
• First posted: 2023-02-28
• Last updated: 2025-09-10

Locations

1 site across 1 country: Italy