International Prospective Registry of Patients With Alpha Thalassemia
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 2
- 主要终点
- Survival to birth
研究概览
简要总结
This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia.
详细描述
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with alpha thalassemia major and other alpha thalassemia mutations. Data collected will be used to:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with ATM.
- Improve medical decision making.
- Improve quality of care.
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
- •diagnosis of alpha thalassemia (prenatal or postnatal) with genotype consistent with ATM or BHFS phenotype
- •referred to the University of California, San Francisco Fetal Treatment Center for fetal diagnosis, management and/or evaluation for the ongoing in utero stem cell transplantation clinical trial
排除标准
- 未提供
结局指标
主要结局
Survival to birth
时间窗: 6 months
Number of fetuses diagnosed with alpha thalassemia who survive to birth, compared to number of fetuses diagnosed with alpha thalassemia who have fetal demise or are terminated in utero. This is measured in number of fetuses alive at birth divided by number of all fetuses.
Vineland-3 Adaptive Behavior Scale
时间窗: 10-15 years
Results of neurodevelopmental testing using the Vineland Adaptive Behavior Scale version 3. The Vineland-3 scoring system is based on scores for three specific adaptive behavior domains: Communication, Daily Living Skills, and Socialization. The domain scores are expressed as standard scores with a mean of 100 and standard deviation of 15.
次要结局
- Gestational age at birth(6 months)
- Length of hospitalization(6 months-1 year)
- Resolution of hydrops(6 months)
- Mechanical ventilation(1 year)