Analysis of Muscular Properties in Patients With MFS & EDS

Status Recruiting

Clinical 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). 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.

Clinical Trial 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

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05720923
Study type	Observational
Source	IRCCS Policlinico S. Donato
Contact	Alessandro Pini, MD
Phone	+390252774705
Email	alessandro.pini@grupposandonato.it
Status	Recruiting
Phase
Start date	February 15, 2023
Completion date	February 2025

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms