Rare Diseases Clinical Trial
Official title:
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.
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. ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT05794217 -
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
|
||
Completed |
NCT03680365 -
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
|
||
Completed |
NCT03290469 -
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
|
N/A | |
Not yet recruiting |
NCT05955794 -
Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes
|
N/A | |
Recruiting |
NCT04429750 -
Intact Cord Resuscitation in CDH
|
N/A | |
Not yet recruiting |
NCT04152876 -
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
|
||
Recruiting |
NCT03683966 -
MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
|
||
Not yet recruiting |
NCT04319796 -
European Registry on Rare Neurological Diseases
|
||
Completed |
NCT02736565 -
Pbi-shRNAâ„¢ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma
|
Phase 1 | |
Completed |
NCT05070988 -
Oral Health Related Quality of Life of Patients With Rare Diseases: a Qualitative Approach
|
||
Completed |
NCT03563677 -
Dual Guidance Structure for Evaluation of Patients With Unclear Diagnosis in Centers for Rare Diseases
|
N/A | |
Recruiting |
NCT05499091 -
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
|
N/A | |
Completed |
NCT03954652 -
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
|
N/A | |
Recruiting |
NCT05703893 -
Investigation of the Neurovegetative Pattern in Patients With Thoracic Aortic Aneurysms (TAA)
|
||
Enrolling by invitation |
NCT04703179 -
Rare and Undiagnosed Disease Research Biorepository
|
||
Recruiting |
NCT04024774 -
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
|
||
Recruiting |
NCT06343558 -
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
|
||
Not yet recruiting |
NCT06412718 -
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
|
||
Enrolling by invitation |
NCT04654000 -
Rheopheresis as Adjuvant Treatment of Calciphylaxis
|
N/A | |
Recruiting |
NCT04651439 -
Severe Bullous Drug Eruption and Filgrastim
|
Phase 2/Phase 3 |