A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 21
- 试验地点
- 2
- 主要终点
- Magnetic Resonance Imaging (MRI) of the calf muscles without contrast
研究概览
简要总结
Charcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory compromise and premature death with no available treatment.
The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.
详细描述
Charcot-Marie-Tooth (CMT) diseases are the most common inherited motor and sensory neuropathies, composed of a group of pathologically and genetically distinct subtypes ranging from slowly to rapidly progressive disease.
CMT4J is a rare subtype of CMT caused by mutations in the FIG4 gene. Pediatric-onset disease can often be characterized by rapid progression of muscle weakness and atrophy, culminating in loss of ambulation and respiratory compromise and premature death. Adult-onset CMT4J can present with a more variable disease course.
No prospective natural history study for CMT4J has been reported. This study aims to prospectively investigate the natural history of CMT4J, and concurrently to identify potential outcome measures that could be used in future clinical trials. No investigational product will be provided in the study.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Magnetic Resonance Imaging (MRI) of the calf muscles without contrast
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
MRI of bilateral thigh and calf muscles will be performed to characterize the pattern of muscle involvement and evaluate the muscle fat fraction (MFF).
Charcot Marie-Tooth Functional Outcome Measure (CMT-FOM)
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
This is a performance-based outcome assessment which measures limitations in functional abilities in adults.
Pulmonary Function Test, sitting and lying (PFT)
时间窗: Change is being assessed from baseline measures every 12 months for up to five years
The purpose of the PFT is to identify the severity and progression of pulmonary impairment, and will be performed every 12 months.
Nerve Conduction Study (NCS)
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
NCS is an electrophysiological test to evaluate the sensory and motor responses in the upper and lower extremities.
Charcot Marie-Tooth Pediatric Scale (CMTPedS)
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
This an 11 item scale is used in patients younger than 18 yrs of age and generates a linear score of disability.
Charcot-Marie-Tooth Neuropathy Score second version (CMTNSv2)
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
This is a 36 point scale that monitors disease impairment and progression with a higher score signifies increased disability.
CMT Health Index (CMTHI)
时间窗: Change is being assessed from baseline measures every 6 months for up to five years
The CMTHI is a disease-specific, adult patient reported outcome measure designed to capture the disease burden of inherited neuropathies in the context of a clinical trial.
次要结局
未报告次要终点