Analysis of Muscle Morphological and Electromechanical Properties in Patients With MFS and EDS: a Low-risk Intervention Study
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 65
- 试验地点
- 1
- 主要终点
- Neuromuscular properties
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Diagnosis of Marfan syndrome or Ehlers Danlos syndrome currently in follow-up at Cardiovascular Genetic Centre IRCCS Policlinico San Donato;
- •Signed informed consent;
排除标准
- •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.
结局指标
主要结局
Neuromuscular properties
时间窗: 40 minutes
transcutaneous electrical stimulation in electromyography
Morphological analysis
时间窗: 20 minutes
Non invasive analysis of the tissue through ultrasound of the leg
次要结局
未报告次要终点
研究者
Alessandro Pini
Unit Director
IRCCS Policlinico S. Donato