Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico | OTHER |
Not provided
Not provided
Not provided
The goal of this observational study is to describe and assess the presence of perceived fatigue in subjects with MFS and EDS. the main question it aims to answer through the FSS instrument is:
Marfan syndrome (MFS) and hypermobile Ehlers-Danlos Syndrome (hEDS) are rare diseases of the connective tissue presenting peculiar symptoms as well as high mortality due to complications related to dilatation and dissection of the ascending aorta and great arteries. Life expectancy of patients with MFS and hEDS has improved markedly in the last decades, but still remains lower than that of the general population. Fatigue represent one of the main causes that limit the quality of life in these populations. The Fatigue Severity Scale (FSS) is a questionnaire widely used in populations with chronic diseases and has been previously applied in MFS and hEDS population: indeed, fatigue interferes with activities of daily living and the presence of chronic pain. However, the potential correlations that fatigue may have with different aspects of psychological well-being (i.e. insomnia and depression) were not investigated in MFS and hEDS.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| MFS_cohort | Adult patients with Marfan syndrome |
| |
| hEDS_cohort | Adult patients with hypermobile Ehlers-Danlos syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Questionnaire | Other | Questionnaire for fatigue assessment |
|
| Measure | Description | Time Frame |
|---|---|---|
| Physical and psychological features | The mean, median, standard deviation and interquartile range will be used for continuous variables, whereas frequency and percentage will be applied for nominal and categorical variables. The Shapiro-Wilks test will be used to assess the Gaussian distributions. | 10 months |
| Measure | Description | Time Frame |
|---|---|---|
| Psychosocial variables | The bivariate correlation analysis will be performed by calculating the Pearson or Spearman correlation coefficient | 10 months |
Not provided
Inclusion Criteria:
Not provided
Not provided
Not provided
Enrollment of 200 subjects with MFS and hEDS currently in follow-up at the Cardiovascular Genetic Centre, IRCCS Policlinico San Donato. The study includes the involvement of subjects with hEDS currently in follow-up at Fondazione Ca' Granda IRCCS Policliclinico.
Not provided
Not provided
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Policlinico San Donato | San Donato Milanese | Lombardy | 20097 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39762099 | Derived | Udugampolage N, Taurino J, Bassotti A, Pini A, Caruso R, Callus E, Magon A, Conte G, De Angeli G, Paglione G, Baroni I, Trifiro G. Exploring fatigue in Marfan and hypermobile Ehlers-Danlos syndromes: an analytical cross-sectional study in two Italian healthcare centres. BMJ Open. 2025 Jan 6;15(1):e087298. doi: 10.1136/bmjopen-2024-087298. |
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D005221 | Fatigue |
| D007319 | Sleep Initiation and Maintenance Disorders |
| D003863 | Depression |
| D008382 | Marfan Syndrome |
| D004535 | Ehlers-Danlos Syndrome |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012816 | Signs and Symptoms |
Not provided
Not provided
| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
Not provided
Not provided
Not provided
Not provided
Not provided
| D020919 | Sleep Disorders, Intrinsic |
| D020920 | Dyssomnias |
| D012893 | Sleep Wake Disorders |
| D009422 | Nervous System Diseases |
| D001523 | Mental Disorders |
| D001526 | Behavioral Symptoms |
| D001519 | Behavior |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D012868 | Skin Abnormalities |
| D012873 | Skin Diseases, Genetic |
| D003095 | Collagen Diseases |
| D012871 | Skin Diseases |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |