Ultrasound and Magnetic Resonance Imaging for Assessing Muscle Contractile Performance in FSHD - An Exploratory Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Stage II: Change of contractile performance, MRI measures and clinical measures with FSHD disease progression after 1 year.
研究概览
简要总结
Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands. Magnetic resonance imaging (MRI) and muscle ultrasound have contributed to an enhanced understanding of the pathophysiology of Facioscapulohumeral Muscular Dystrophy (FSHD). Previously, our group demonstrated the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor, and remains relatively unexplored. In this study, we aim to assess the use of ultrasound-defined contractile performance, in comparison with current measures including structural MRI, for monitoring disease progression in FSHD.
详细描述
Rationale: Facioscapulohumeral dystrophy (FSHD) is a slowly progressive hereditary muscle dystrophy characterized by initial asymmetrical weakness of the facial and shoulder girdle muscles, frequently followed by weakness in the trunk and leg muscles.
Previously, our research group showed the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor. However, there is currently still a lack of studies on how the disrupted muscle architecture in muscle dystrophies influences the contractile efficiency. We might establish a baseline for muscle contractile performance with muscle ultrasound, determined by muscle strain and displacement.
Muscle imaging has previously contributed to a better understanding of the pathophysiology of various neuromuscular disorders. Both MRI and ultrasound have proven their clinical relevance in neuromuscular dystrophy. With the current development of FSHD clinical trials, the extensive need for biomarkers to follow disease progression is growing. To investigate whether muscle contractile performance can help explain the loss in strength and thereby also has the potential to act as a future biomarker, will be explored in this project.
Objective(s): We aim to assess the use of ultrasound-defined contractile performance as a biomarker for monitoring disease progression and treatment effects in patients with FSHD.
Stage I:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 70 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age between 18 and 70 years.
- •Informed consent is given by the participant.
- •Ability to read and understand written and spoken instruction in Dutch.
- •Willingness and ability to understand nature and content of the study
排除标准
- •Other diseases that could diffusely affect muscle integrity or disturb the imaging appearance beyond that what can be extrapolated.
- •Wheelchair dependence
- •Pregnancy
- •Stage II: Any contra-indications for MRI, including:
- •Claustrophobia
- •Pacemakers and defibrillators
- •Nerve stimulators
- •Intracranial clips
- •Intraorbital or intraocular metallic fragments
- •Cochlear implants and ferromagnetic implants (e.g. implant for scoliosis)
- •Inability to lie supine for 60 minutes
- •Necessity of (continuous) daytime ventilation
- •Scoliosis surgery
结局指标
主要结局
Stage II: Change of contractile performance, MRI measures and clinical measures with FSHD disease progression after 1 year.
时间窗: change from baseline to 1 year follow-up
The ultrasound, MRI and clinical measures at baseline are compared with the measures after 1 year. The ultrasound Speckle-Tracking technique is employed during the dynamic approach to establish the muscle contractile performance, determined by muscle strain and displacement. The Ultrafast Shear Wave Elastography Imaging technique is used during the static approach to evaluate muscle stiffness, grey values(Z-scores) and muscle pinnation angle. For FSHD patients in this study the Medical Research Counsel scale (MRC) and/or Ricci score will be known. These measures will also be used to evaluate disease progression. The range of the MRC score is 0-5, in which '0' means no contraction of the muscle and '5' means normal contraction of the muscle. The Ricci score ranges from 0 - 10 (0= no symptoms and 10=wheelchair bound). With the MRI measurements we evaluate the muscle fat fraction (%), contractile volume(mm\^3), fiber curvature, fascicle length(mm), PCSA(mm\^2).
Stage II: Difference in contractile performance, MRI measures and clinical measures between healthy individuals and patients with FSHD.
时间窗: At baseline
The ultrasound Speckle-Tracking technique is employed during the dynamic approach to establish the muscle contractile performance, determined by muscle strain and displacement. The Ultrafast Shear Wave Elastography Imaging technique is used during the static approach to evaluate muscle stiffness, grey values(Z-scores) and muscle pinnation angle. With the MRI measurements we evaluate the muscle fat fraction (%), contractile volume(mm\^3), muscle edema, muscle inflammation, fiber curvature, fascicle length(mm), PCSA(mm\^2).
Stage I: Repeatability and feasibility of the ultrasound-defined muscle contractile performance.
时间窗: At baseline
The feasibility of the ultrasound-defined contractile performance procedure is expressed in the number of dropouts in stage I. The repeatability of the muscle contractile performance procedure will be determined with the coefficient of variation in stage I.
次要结局
未报告次要终点