Fatigue, Depressive Disorders and Insomnia in Adult Patients With Marfan Syndrome and Ehlers-Danlos Syndrome: Survey

Study Overview
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Brief Summary
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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: The relationship of fatigue with physical and psychological characteristics, the presence of depressive disorders and insomnia.

Detailed Description
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Marfan syndrome (MFS) and Ehlers-Danlos Syndrome (EDS) 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 EDS 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 EDS 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 EDS.

Official Title
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Observational Survey on Fatigue Levels in Relation to Depressive Disorders and Insomnia in Adult Patients With Marfan Syndrome and Ehlers-Danlos Syndrome

Conditions
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Rare Diseases, Fatigue, Insomnia, Depression

Intervention / Treatment
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* Other: Questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subjects aged 18 or greater with clinical and/or genetic diagnosis of Marfan syndrome; Subjects aged 18 or greater with clinical and/or genetic diagnosis of Ehlers-Danlos syndrome; Signed informed consent. Exclusion Criteria: Functional physical limitations (handicap, impairment, disability) to activities of daily living; Clinically significant heart or lung diseases.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| MFS_cohort<br>Adult patients with Marfan syndrome | Other: Questionnaire<br>* Questionnaire for fatigue assessment<br>|
| EDS_cohort<br>Adult patients with Ehlers-Danlos syndrome | Other: Questionnaire<br>* Questionnaire for fatigue assessment<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Psychosocial variables | The bivariate correlation analysis will be performed by calculating the Pearson or Spearman correlation coefficient | 10 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Marfan syndrome, Ehlers-Danlos syndrome, Fatigue, Survey