Rare DiseasesMUSCLENCT05720923
Analysis of Muscular Properties in Patients With MFS and EDS
An observational study of Rare Diseases and Marfan Syndrome, run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial summary
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). Read more about this study
- Who is it for?
- Ages 12 years and olderHealthy volunteers can take part
- Conditions the study is for
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- What is being tested?
- Analysis with Ergometer
- Type of treatment
- Medical device
- How many people
- 65 participants
- Where
- 1 siteItaly
- Study dates
- 15 Feb 2023to 31 Jan 2026
- 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 12 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Primary care clinic
Who may be able to join
- Diagnosis of Marfan syndrome or Ehlers Danlos syndrome currently in follow-up at Cardiovascular Genetic Centre IRCCS Policlinico San Donato;
- Signed informed consent;
Who cannot join
- Previous muscle-tendon injuries in the lower and/or upper limbs;
- Presence of cardiac pacemaker;
- Epilepsia;
- Presence neurological disorders or circulatory diseases in the lower limbs;
- Pregnancy.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Analysis of Muscle Morphological and Electromechanical Properties in Patients With MFS and EDS: a Low-risk Intervention Study
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). the main questions it aims to answer are:
- To assess the ability to develop muscle strength;
- Muscle and tendon morphology involved in muscle contractions/relaxation;
- Neuromuscular functionality.
Read more
Participants will be take part in the study by performing a test for the assessment of the neuromuscular activity (voluntary muscle contractions) and undergoing a muscle ultrasound for the study of muscles and tendons.
Researchers will compare the two groups with a control group to see potential differences in the morphological and neuromuscular structures of syndromic patients.
Read the detailed description
MFS, with an autosomal dominant inheritance, can lead to the presence of pathological systemic/syndromic phenotypes. Despite the cardiovascular involvement is responsible for the high mortality and morbidity, the skeletal system and the muscular system also present alterations at the metabolic level.
Like MFS, Ehlers-Danlos Syndrome (EDS) is a rare autosomal dominantly inherited connective tissue disorder. EDS is caused by mutations that cause impaired collagen production, therefore of pathological phenotypes affecting connective tissues such as the integumentary system, the system skeletal system, the cardiovascular system and other organs and tissues. Joint dislocations, musculoskeletal pain, atrophic scarring, and severe scoliosis may occur in patients with EDS.
To date, there are no studies in literature assessing neuromuscular properties in patients with MFS and EDS.
However, the analysis of the musculo-tendon morphological and mechanical properties makes it possible to evaluate the muscle capacity especially in pathological conditions, where the morphology and tendon mechanics are altered, thus providing pivotal information on changes in the contractile capacity of the muscle.
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Being tested
- Analysis with Ergometer
- Keywords
- Rare Diseases;, Fatigue;, Muscle
- Medical subject headings
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome, Fatigue
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Analysis with ErgometerDevice
The analysis with the ergometer aims at assessing neuromuscular function
| Study group | Role | What they receive |
|---|---|---|
| MFS_f | Patients with Marfan syndrome with fatigue Receives: Device: Analysis with Ergometer | |
| MFS_nf | Patients with Marfan syndrome without fatigue Receives: Device: Analysis with Ergometer | |
| EDS_f | Patients with Ehlers Danlos syndrome with fatigue Receives: Device: Analysis with Ergometer | |
| EDS_nf | Patients with Ehlers Danlos syndrome without fatigue Receives: Device: Analysis with Ergometer | |
| Volunteers | Healthy adult volunteers without fatigue Receives: Device: Analysis with Ergometer |
What is being measured
The primary outcome is the main question the study is designed to answer.
Morphological analysis
Non invasive analysis of the tissue through ultrasound of the leg
Measured: 20 minutes
Neuromuscular properties
Voluntary muscle contractions
Measured: 15 seconds
Neuromuscular properties
transcutaneous electrical stimulation in electromyography
Measured: 40 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Feb 2023
- Study start15 Feb 2023
- Primary completion30 Jul 2025
- Study completion31 Jan 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 65 participants (actual)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Collaborators
- University of Milan
- Responsible party
- Principal investigator, Alessandro Pini, IRCCS Policlinico S. Donato
- Investigators
- Giuliana Trifirò, MD, Principal investigator, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05720923
- Sponsor's protocol ID
- MUSCLE
- Acronym
- MUSCLE
- Status last verified
- Oct 2026
- First submitted
- 19 Jan 2023
- Last updated
- 16 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of Muscle Morphological and Electromechanical Properties in Patients With MFS and EDS: a Low-risk Intervention Study
- ClinicalTrials.gov ID
- NCT05720923
- Acronym / sponsor ID
- MUSCLE / MUSCLE
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Keywords
- Rare Diseases;, Fatigue;, Muscle
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 65 participants (actual)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Collaborators
- University of Milan
- Study start
- 15 Feb 2023 (actual)
- Primary completion
- 30 Jul 2025 (actual)
- Study completion
- 31 Jan 2026 (actual)
- First posted
- 9 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 learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS). the main questions it aims to answer are:
- To assess the ability to develop muscle strength;
- Muscle and tendon morphology involved in muscle contractions/relaxation;
- Neuromuscular functionality.
Participants will be take part in the study by performing a test for the assessment of the neuromuscular activity (voluntary muscle contractions) and undergoing a muscle ultrasound for the study of muscles and tendons.
Researchers will compare the two groups with a control group to see potential differences in the morphological and neuromuscular structures of syndromic patients.
Detailed description
MFS, with an autosomal dominant inheritance, can lead to the presence of pathological systemic/syndromic phenotypes. Despite the cardiovascular involvement is responsible for the high mortality and morbidity, the skeletal system and the muscular system also present alterations at the metabolic level.
Like MFS, Ehlers-Danlos Syndrome (EDS) is a rare autosomal dominantly inherited connective tissue disorder. EDS is caused by mutations that cause impaired collagen production, therefore of pathological phenotypes affecting connective tissues such as the integumentary system, the system skeletal system, the cardiovascular system and other organs and tissues. Joint dislocations, musculoskeletal pain, atrophic scarring, and severe scoliosis may occur in patients with EDS.
To date, there are no studies in literature assessing neuromuscular properties in patients with MFS and EDS.
However, the analysis of the musculo-tendon morphological and mechanical properties makes it possible to evaluate the muscle capacity especially in pathological conditions, where the morphology and tendon mechanics are altered, thus providing pivotal information on changes in the contractile capacity of the muscle.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| MFS_f | – | Device: Analysis with ErgometerPatients with Marfan syndrome with fatigue |
| MFS_nf | – | Device: Analysis with ErgometerPatients with Marfan syndrome without fatigue |
| EDS_f | – | Device: Analysis with ErgometerPatients with Ehlers Danlos syndrome with fatigue |
| EDS_nf | – | Device: Analysis with ErgometerPatients with Ehlers Danlos syndrome without fatigue |
| Volunteers | – | Device: Analysis with ErgometerHealthy adult volunteers without fatigue |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Primary care clinic
Key inclusion criteria (2 listed)
- Diagnosis of Marfan syndrome or Ehlers Danlos syndrome currently in follow-up at Cardiovascular Genetic Centre IRCCS Policlinico San Donato;
- Signed informed consent;
Key exclusion criteria (5 listed)
- Previous muscle-tendon injuries in the lower and/or upper limbs;
- Presence of cardiac pacemaker;
- Epilepsia;
- Presence neurological disorders or circulatory diseases in the lower limbs;
- Pregnancy.
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 |
|---|---|---|
| Analysis with ErgometerThe analysis with the ergometer aims at assessing neuromuscular function | Device | EDS_f, EDS_nf, MFS_f, MFS_nf, Volunteers |
Primary outcome
Morphological analysis
Time frame: 20 minutes
Non invasive analysis of the tissue through ultrasound of the leg
Neuromuscular properties
Time frame: 15 seconds
Voluntary muscle contractions
Neuromuscular properties
Time frame: 40 minutes
transcutaneous electrical stimulation in electromyography
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 16 Oct 2026.
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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.
Giuliana Trifirò, MD principal investigator
IRCCS Policlinico S. Donato
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 Marfan Syndrome, 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 2 inclusion and 5 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 16 Oct 2026. 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?
Morphological analysis (time frame: 20 minutes). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Oct 2026.