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

Completed

• Conditions: Rare Diseases; Insomnia; Fatigue; Depression
• Interventions: Other: Questionnaire

• Registration Number: NCT05712564
• Lead Sponsor: IRCCS Policlinico S. Donato

Brief Summary

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

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.

Study Timeline

• Study Start: 2023-01-09
• Study First Submitted: 2023-01-25
• Study First Submitted QC: 2023-01-25
• Study First Posted: 2023-02-03
• Primary Completion: 2023-04-15
• Study Completion: 2023-05-09
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-09
• Last Update Posted: 2025-01-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 282

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 hypermobile Ehlers-Danlos syndrome;
• Signed informed consent;
• Ability to speak, read and write in Italian.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
MFS_cohort	Questionnaire	Adult patients with Marfan syndrome
EDS_cohort	Questionnaire	Adult patients with Ehlers-Danlos syndrome

Primary Outcome Measures

Name	Time	Method
Physical and psychological features	10 months	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.

Secondary Outcome Measures

Name	Time	Method
Psychosocial variables	10 months	The bivariate correlation analysis will be performed by calculating the Pearson or Spearman correlation coefficient

Trial Locations

Locations (1)

IRCCS Policlinico San Donato; 🇮🇹 San Donato Milanese, Lombardia, Italy