Retrospective Cohort Study Assessing the Natural Course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and Sporadic and Hereditary Inclusion Body Myopathies (IBM)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 350
- 试验地点
- 1
- 主要终点
- Manual Muscle Strength assessed by Medical Research Council (MRC)
研究概览
简要总结
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM). Several criteria and outcome measures have led to contradicting results. The investigators want to retrospectively assess the natural course of the disease in CCFDN and IBM patients according to the data recorded during clinical routine visits.
详细描述
We wanted to assess the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM) over 10 years to gain new insights in both conditions.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical and/or genetic diagnosis of Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM)
排除标准
- •Additional neuromuscular diseases
结局指标
主要结局
Manual Muscle Strength assessed by Medical Research Council (MRC)
时间窗: 6-months intervals
Retrospective
次要结局
未报告次要终点
研究者
Maggie Walter
Professor, MD, MA
Ludwig-Maximilians - University of Munich