Rare DiseasesFAMEDNCT05712564
Fatigue, Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Ehlers-Danlos Syndrome: Survey
An observational study of Rare Diseases and Fatigue, run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Rare Diseases, Fatigue, Insomnia
- What is being tested?
- Questionnaire
- How many people
- 282 participants
- Where
- 1 siteItaly
- Study dates
- 9 Jan 2023to 9 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Observational Survey on Fatigue Levels in Relation to Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome
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.
Read the 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.
- Conditions
- Rare Diseases, Fatigue, Insomnia, Depression
- Being tested
- Questionnaire
- Keywords
- Marfan syndrome, Ehlers-Danlos syndrome, Fatigue, Survey
- Medical subject headings
- Rare Diseases, Fatigue, Sleep Initiation and Maintenance Disorders, Depression, Marfan Syndrome, Ehlers-Danlos Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnaireOther
Questionnaire for fatigue assessment
| Study group | Role | What they receive |
|---|---|---|
| MFS_cohort | Adult patients with Marfan syndrome Receives: Other: Questionnaire | |
| hEDS_cohort | Adult patients with hypermobile Ehlers-Danlos syndrome Receives: Other: Questionnaire |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 10 months
Secondary outcomes (1)
Psychosocial variables
The bivariate correlation analysis will be performed by calculating the Pearson or Spearman correlation coefficient
Measured: 10 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2023
- Study start9 Jan 2023
- Primary completion15 Apr 2023
- Study completion9 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by IRCCS Policlinico S. DonatoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 282 participants (actual)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Alessandro Pini, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05712564
- Sponsor's protocol ID
- FAMED
- Acronym
- FAMED
- Status last verified
- Jan 2025
- First submitted
- 25 Jan 2023
- Last updated
- 13 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 39762099
Study at a glance
From the registry record, last updated by the sponsor on 13 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Survey on Fatigue Levels in Relation to Depressive Disorders and Insomnia in Adult Patients with Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome
- ClinicalTrials.gov ID
- NCT05712564
- Acronym / sponsor ID
- FAMED / FAMED
- Conditions
- Rare Diseases, Fatigue, Insomnia, Depression
- Keywords
- Marfan syndrome, Ehlers-Danlos syndrome, Fatigue, Survey
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 282 participants (actual)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Collaborators
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
- Study start
- 9 Jan 2023 (actual)
- Primary completion
- 15 Apr 2023 (actual)
- Study completion
- 9 May 2023 (actual)
- First posted
- 3 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| MFS_cohort | – | Other: QuestionnaireAdult patients with Marfan syndrome |
| hEDS_cohort | – | Other: QuestionnaireAdult patients with hypermobile Ehlers-Danlos syndrome |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnaireQuestionnaire for fatigue assessment | Other | MFS_cohort, hEDS_cohort |
Primary outcome
Physical and psychological features
Time frame: 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.
1 secondary outcome
Psychosocial variables
Time frame: 10 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jan 2025.
- Derived from this study: PubMed 39762099Udugampolage 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Fatigue, run by IRCCS Policlinico S. Donato at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Physical and psychological features (time frame: 10 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05712564, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Jan 2025.