A Pilot Study of the Natural History of Infants With Spinal Muscular Atrophy (SMA) Type 1
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- The primary outcome of this pilot study is to demonstrate the feasibility of the study design and test the outcome measures in patients with SMA 1.
研究概览
简要总结
Background:
- Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years.
Objectives:
- To study how the symptoms of SMA 1 progress in infants and children.
Eligibility:
- Infants and children with SMA 1 born on or after January 1, 2007.
Design:
- Researchers will review the child s medical records and talk with parents by telephone.
- For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age.
Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone.
- No treatment or care will be provided as part of this study.
详细描述
Objective:
To conduct a pilot, observational, retrospective and prospective, natural history study of infants affected with spinal muscular atrophy type 1 (SMA 1). The goal is to assess the feasibility of the study design in order to plan a larger study aimed at understanding the changing natural history and obtain current data on survival of patients affected with SMA 1. This information is important for designing clinical trials.
Study Population:
Up to 50 children born on or after January 1, 2007 with a clinical diagnosis of SMA 1 and genetic testing consistent with a homozygous mutation of the SMN 1 gene on chromosome 5q13 will be enrolled in the study.
Design:
研究设计
- 研究类型
- Observational
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Year 至 6 Years（Child）
- 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
The primary outcome of this pilot study is to demonstrate the feasibility of the study design and test the outcome measures in patients with SMA 1.
次要结局
- Secondary outcomes include evaluation for time of events, i.e., time of ventilator support for greater than or equal to 16 hours a day continuously for more than 2 weeks and time of death.