Understanding the quality of life in children with Marfan syndrome
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
This study looks at how Marfan syndrome affects the quality of life for children in Italy to see what support they might need to feel better about themselves and manage their condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 80 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | IRCCS Policlinico S. Donato Academic / other |
| Locations | 1 site (San Donato Milanese, Lombardia) |
| Trial ID | NCT05748314 on ClinicalTrials.gov |
What this trial studies
This observational study aims to assess the quality of life in pediatric patients diagnosed with Marfan syndrome (MFS) in Italy. It focuses on understanding how the physical manifestations of MFS affect self-image and self-management skills among affected children. Participants will complete four self-report questionnaires to provide insights into their experiences and needs, particularly regarding psychological support. The findings will help clinicians identify patients who may require additional psychological assistance to improve treatment compliance and adaptation to their condition.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric patients diagnosed with Marfan syndrome according to the Revised Ghent criteria.
Not a fit: Patients with known cognitive deficits may not benefit from this study due to the nature of the self-report questionnaires.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of the psychological and social challenges faced by children with Marfan syndrome, leading to better support and care strategies.
How similar studies have performed: While studies on quality of life in rare diseases exist, this specific focus on Marfan syndrome in pediatric patients is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Signed informed consent; * MFS diagnosis according to Revised Ghent criteria (2010); Exclusion Criteria: * Known cognitive deficits
Where this trial is running
San Donato Milanese, Lombardia
- IRCCS Policlinico San Donato — San Donato Milanese, Lombardia, Italy (Recruiting)
Study contacts
- Principal investigator: Alessandro Pini, MD — Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato
- Study coordinator: Alessandro Pini, MD
- Email: alessandro.pini@grupposandonato.it
- Phone: +390252774705
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.