CTRI/2022/07/043625尚未招募不适用
An observational study to find the correlation between the variation in copy numbers of Survival motor gene 2 and clinical phenotypes of children with spinomuscular atrophy
SMS Medical college jaipur1 个研究点 分布在 1 个国家目标入组 30 人开始时间: 2022年1月7日最近更新:
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- To assess the Correlation between the copy number variation of SMN2 gene and the clinical phenotypes of Spinal muscular atrophy (SMA) patients
研究概览
简要总结
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder caused by mutations of SMN1 gene. It is characterised by significant phenotype variability. In this study we analyse phenotypic modifiers of the disease such as copy number variation of SMN2 gene. This study will also be helpful for prognosis prediction and genetic counselling.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 1.00 Day(s) 至 18.00 Year(s)（—）
- 性别
- All
入选标准
- •1.Diagnosed cases of SMA between age group from birth to 18 years.
排除标准
- •1.Associated other neurological, muscular and genetic diseases 2.Age more than 18 years 3.Those who give negative consent 4.Already on treatment.
结局指标
主要结局
To assess the Correlation between the copy number variation of SMN2 gene and the clinical phenotypes of Spinal muscular atrophy (SMA) patients
时间窗: During 1 year follow up
次要结局
- To assess the prognosis and to aid in genetic counselling(1 year)
研究者
研究点 (1)
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