JPRN-jRCT1080224067已完成Unknown
RETROSPECTIVE COHORT STUDY OF THE NATURAL HISTORY OF TYPE 1 SPINAL MUSCULAR ATROPHY USING MEDICAL RECORD DATA
F. Hoffmann-La Roche, Ltd., Chugai Pharmaceutical0 个研究点目标入组 160 人开始时间: 2018年9月25日最近更新:
适应症
试验速览
- 阶段
- Unknown
- 状态
- 已完成
- 发起方
- 入组人数
- 160
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- ot applicable 至 ot applicable（—）
- 性别
- All
入选标准
- •First Signs or symptoms attributable to type-1 SMA (including hypotonia, absent deep tendon reflex and/or tongue fasciculations) between 28 days and 3 months of age;
- •- Genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the SMN1 gene; and
- •- Confirmed SMN2 copy number 2 or unknown SMN2 copy number.
排除标准
- 未提供
研究者
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