Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 97
- 试验地点
- 1
- 主要终点
- Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1
研究概览
简要总结
The aim of our study is to evaluate the correlation between quantified fibro-adipous infiltration of muscles on MRI assessed by MERCURI Score and the functional abilities (deficiencies, activity limitations and social participation of pediatric patients with arthrogryposis.
详细描述
Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint contractures at two or more distinct joint levels at birth. More than 400 causes are currently known. The prevalence is estimated at 1/3000 to 1/2000. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients.
Correlations between fibro-adipous infiltration and muscular deficits have already been studied in other neuromuscular diseases such as Pompe disease or Duchenne muscular dystrophy. These studies concluded on a good correlation between disease progression and severity, muscle strength, and fatty infiltration assessed by Mercuri score. The investigators concluded that muscular MRI can be used as a non-invasive biomarker and a tool to follow the progression of neuromuscular disease and help evaluate the potential effects of therapies.
The aim of this project is to define whether MRI could also be used as a tool, through the assessment of muscle fatty infiltration, to help predict the functional abilities of our patients with AMC, and more specifically the two most frequent types, Amyoplasia and distal arthrogryposis.
The investigators will analyze fatty infiltration measured by muscle MRI and quantify it using the MERCURI score which was developed by Mercuri et al. (Mercuri et al. 2002) as a semi-quantitative score to quantify fibro-adipose muscle infiltration on muscle MRI.
The investigators will evaluate musculoskeletal deficiencies and limitations of activity from data obtained from patients followed in our AMC reference center at the University Hospital Grenoble Alpes (CHUGA).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •age < 18 at the first clinical evaluation or follow up exclusively in CHUGA pediatric rehabilitation unit
- •Clinical or molecular diagnosis of AMC established by geneticists at CHUGA
- •functional evaluation during consultation and follow-up in CHUGA pediatric rehabilitation unit
- •Muscle MRI of upper limbs, lower limbs and trunk performed at CHUGA pediatric radiology unit
排除标准
- •Contra indication MRI.
- •MRI non exploitable.
- •Patient under guardianship or deprived of liberty
结局指标
主要结局
Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1
时间窗: through study completion, an average of 1 year
The degree of fatty muscle infiltration was assessed on muscular MRI and quantified by Mercuri score, each muscle was staged as follows: 1. Normal appearance, 2. Mild involvement (30-60% fatty infiltration). 3. Moderate involvement (\>60% fatty infiltration). 4. Severe involvement (complete infiltration). The degree of muscle fat infiltration was assessed with at least 2 visible slices, and performed by two independent operators. In case of divergent assessments, a consensus was reached after discussion.
次要结局
- Muscular weakness(through study completion, an average of 1 year)
- Ambulatory status(through study completion, an average of 1 year)
- Surgery History(through study completion, an average of 1 year)
- Reaching score(through study completion, an average of 1 year)
- Activity limitation(through study completion, an average of 1 year)
- School status(through study completion, an average of 1 year)
- Passive range of motion (PROM)(through study completion, an average of 1 year)
- Human and technical Help(through study completion, an average of 1 year)