MUSCLE: Analysis of Muscular Properties in Patients With MFS and EDS

Sponsor

IRCCS Policlinico S. Donato (Other)

Overall Status

Recruiting

CT.gov ID

NCT05720923

Collaborator

University of Milan (Other)

Enrollment

Location

23.6

Anticipated Duration (Months)

2.8

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Rare Diseases Marfan Syndrome Ehlers-Danlos Syndrome	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 Design

Study Type:

Observational

Anticipated Enrollment :

65 participants

Observational Model:

Case-Control

Time Perspective:

Cross-Sectional

Official Title:

Analysis of Muscle Morphological and Electromechanical Properties in Patients With MFS and EDS: a Low-risk Intervention Study

Actual Study Start Date :

Feb 15, 2023

Anticipated Primary Completion Date :

Sep 1, 2024

Anticipated Study Completion Date :

Feb 1, 2025

Arms and Interventions

Arm	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

Outcome Measures

Primary Outcome Measures

Morphological analysis [20 minutes]
Non invasive analysis of the tissue through ultrasound of the leg
Neuromuscular properties [15 seconds]
Voluntary muscle contractions
Neuromuscular properties [40 minutes]
transcutaneous electrical stimulation in electromyography

Eligibility Criteria

Criteria

Ages Eligible for Study:

12 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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;