Analysis of Muscular Properties in Patients With MFS and EDS (MUSCLE)

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.

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Marfan Syndrome; Rare Diseases; Ehlers-Danlos Syndrome
• Intervention / Treatment: Device: Analysis with Ergometer

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 Type: Observational
• Enrollment (Estimated): 65

Contacts and Locations

Study Locations

• Italy
  • Lombardy
    • San Donato Milanese, Lombardy, Italy, 20097
      • IRCCS Policlinico San Donato

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Primary care clinic

Description

Inclusion Criteria:

• Diagnosis of Marfan syndrome or Ehlers Danlos syndrome currently in follow-up at Cardiovascular Genetic Centre IRCCS Policlinico San Donato;
• Signed informed consent;

Exclusion Criteria:

• 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.

Study Plan

How is the study designed?

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
MFS_f; Patients with Marfan syndrome with fatigue	Device: Analysis with Ergometer; The analysis with the ergometer aims at assessing neuromuscular function
MFS_nf; Patients with Marfan syndrome without fatigue	Device: Analysis with Ergometer; The analysis with the ergometer aims at assessing neuromuscular function
EDS_f; Patients with Ehlers Danlos syndrome with fatigue	Device: Analysis with Ergometer; The analysis with the ergometer aims at assessing neuromuscular function
EDS_nf; Patients with Ehlers Danlos syndrome without fatigue	Device: Analysis with Ergometer; The analysis with the ergometer aims at assessing neuromuscular function
Volunteers; Healthy adult volunteers without fatigue	Device: Analysis with Ergometer; The analysis with the ergometer aims at assessing neuromuscular function

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Morphological analysis	Non invasive analysis of the tissue through ultrasound of the leg	20 minutes
Neuromuscular properties	Voluntary muscle contractions	15 seconds
Neuromuscular properties	transcutaneous electrical stimulation in electromyography	40 minutes

Collaborators and Investigators

• Sponsor: IRCCS Policlinico S. Donato
• Collaborators: University of Milan
• Investigators: Principal Investigator: Giuliana Trifirò, MD, IRCCS Policlinico S. Donato

Study record dates

Study Major Dates

• Study Start (Actual): February 15, 2023
• Primary Completion (Actual): July 30, 2025
• Study Completion (Estimated): January 1, 2026

Study Registration Dates

• First Submitted: January 19, 2023
• First Submitted That Met QC Criteria: January 31, 2023
• First Posted (Actual): February 9, 2023

Study Record Updates

• Last Update Posted (Estimated): September 10, 2025
• Last Update Submitted That Met QC Criteria: September 8, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Muscle; Rare Diseases;; Fatigue
• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Heart Diseases; Disease Attributes; Genetic Diseases, Inborn; Connective Tissue Diseases; Hematologic Diseases; Skin Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Hemostatic Disorders; Hemorrhagic Disorders; Skin Diseases, Genetic; Skin Abnormalities; Bone Diseases, Developmental; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Signs and Symptoms; Hemic and Lymphatic Diseases; Fatigue; Rare Diseases; Marfan Syndrome; Ehlers-Danlos Syndrome
• Other Study ID Numbers: MUSCLE

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No