Analysis of Muscular Properties in Patients With MFS and EDS

NCT05720923 | Active Not Recruiting

• 1 other identifier: MUSCLE
• Study Type: observational
• Target: 65
• Locations: 1 country
• Sites: 1

Brief 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). 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.

Conditions

Rare Diseases; Marfan Syndrome; Ehlers-Danlos Syndrome

Keywords

Rare Diseases;; Fatigue;; Muscle

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (5)

MFS_f

Patients with Marfan syndrome with fatigue

Device: Analysis with Ergometer

MFS_nf

Patients with Marfan syndrome without fatigue

Device: Analysis with Ergometer

EDS_f

Patients with Ehlers Danlos syndrome with fatigue

Device: Analysis with Ergometer

EDS_nf

Patients with Ehlers Danlos syndrome without fatigue

Device: Analysis with Ergometer

Volunteers

Healthy adult volunteers without fatigue

Device: Analysis with Ergometer

Interventions

Analysis with Ergometer DEVICE

The analysis with the ergometer aims at assessing neuromuscular function

EDS_f; EDS_nf; MFS_f; MFS_nf; Volunteers

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary care clinic

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS Policlinico S. Donato: lead
• University of Milan: collaborator

Study Sites (1)

IRCCS Policlinico San Donato

San Donato Milanese, Lombardy, 20097, Italy

Location

MeSH Terms

Conditions

Rare Diseases; Marfan Syndrome; Ehlers-Danlos Syndrome; Fatigue

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Hemostatic Disorders; Vascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Skin Diseases; Signs and Symptoms

Study Officials

• Giuliana Trifirò, MD

  IRCCS Policlinico S. Donato

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Unit Director

Study Record Dates

• First Submitted: January 19, 2023
• First Posted: February 9, 2023
• Study Start: February 15, 2023
• Primary Completion: July 30, 2025
• Study Completion: January 1, 2026
• Last Updated: September 10, 2025

Record last verified: 2025-09

Locations

IT (1)