NCT05712564

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
282

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2023

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 9, 2023

Completed
16 days until next milestone

First Submitted

Initial submission to the registry

January 25, 2023

Completed
9 days until next milestone

First Posted

Study publicly available on registry

February 3, 2023

Completed
2 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 15, 2023

Completed
24 days until next milestone

Study Completion

Last participant's last visit for all outcomes

May 9, 2023

Completed
Last Updated

January 13, 2025

Status Verified

January 1, 2025

Enrollment Period

3 months

First QC Date

January 25, 2023

Last Update Submit

January 9, 2025

Conditions

Rare DiseasesFatigueInsomniaDepression

Keywords

Marfan syndromeEhlers-Danlos syndromeFatigueSurvey

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (1)

  • Psychosocial variables

    10 months

Study Arms (2)

MFS_cohort

Adult patients with Marfan syndrome

Other: Questionnaire

hEDS_cohort

Adult patients with hypermobile Ehlers-Danlos syndrome

Other: Questionnaire

Interventions

QuestionnaireOTHER

Questionnaire for fatigue assessment

MFS_cohorthEDS_cohort

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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.

You may qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, 20097, Italy

Location

Related Publications (1)

  • 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.

    PMID: 39762099DERIVED

MeSH Terms

Conditions

Rare DiseasesFatigueSleep Initiation and Maintenance DisordersDepressionMarfan SyndromeEhlers-Danlos Syndrome

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsSigns and SymptomsSleep Disorders, IntrinsicDyssomniasSleep Wake DisordersNervous System DiseasesMental DisordersBehavioral SymptomsBehaviorBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornConnective Tissue DiseasesSkin and Connective Tissue DiseasesHemostatic DisordersVascular DiseasesHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesSkin AbnormalitiesSkin Diseases, GeneticCollagen DiseasesSkin Diseases

Intervention Hierarchy (Ancestors)

Data CollectionEpidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

January 25, 2023

First Posted

February 3, 2023

Study Start

January 9, 2023

Primary Completion

April 15, 2023

Study Completion

May 9, 2023

Last Updated

January 13, 2025

Record last verified: 2025-01

Locations

IT(1)