A Registry of Cases of Spinal Muscular Atrophy Diagnosed in the Prenatal Period That Received Disease-Modifying Therapy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Maternal-fetal monitoring outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA)
研究概览
简要总结
Because no long-term record of prenatal Spinal Muscular Atrophy (SMA) treatment exists, this study will address an important gap in the understanding of the safety and benefit of treatment while in the womb. The registry will help guide best practices for monitoring pregnant women and their fetus with SMA, if treated with a medication while in the womb, and to follow the baby after birth for signs of safety and added benefit birth and support future research and study development.
详细描述
Primary Objectives
- Describe maternal-fetal monitoring and pregnancy outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA).
- Describe delivery outcomes associated with prenatally treated SMA.
Secondary Objectives
- Describe postnatal clinical outcomes of women that were dosed with risdiplam during pregnancy to treat an affected fetus.
- Describe clinical outcomes of children with SMA treated prenatally.
This is a longitudinal retrospective/prospective registry study with the expected sample size of 30 mother-child dyads. The study will collect data elements from cases of fetuses diagnosed with SMA in utero and where their mothers self-administered a disease-modifying therapy (DMT) to treat the affected fetus.
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
- •Current or past pregnancy during which the fetus received a genetic diagnosis of SMA.
- •Current or past treatment with SMA-directed therapy intended to treat the fetus during gestation (such as risdiplam, nusinersen, onasemnogene abeparvovec, or another product intended to treat SMA).
排除标准
- •Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.
结局指标
主要结局
Maternal-fetal monitoring outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with Spinal Muscular Atrophy (SMA)
时间窗: At enrollment and shortly after delivery
Maternal-fetal monitoring outcome endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics.
Pregnancy outcomes from instances of healthy women dosed with risdiplam to treat their fetus diagnosed with SMA
时间窗: At enrollment and shortly after delivery
Pregnancy outcome endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics.
Delivery outcomes associated with prenatally treated SMA
时间窗: At delivery
Delivery endpoints will be obtained from questionnaires and medical chart review. Analyses will be conducted using SAS software and will be summarized using descriptive statistics.
次要结局
未报告次要终点