The Chromosome 18 Clinical Research Center
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 4,000
- 试验地点
- 2
- 主要终点
- Primary
研究概览
简要总结
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.
详细描述
Protocol Summary:
The hypotheses are:
- growth hormone (GH) deficiency in children with chromosome 18 deletions is accompanied by cognitive and microstructural abnormalities of the brain that can be ameliorated by GH treatment; and
- the physical and behavioral findings in individuals with abnormalities of chromosome 18 are due to the genes that present in a non-diploid number.
Therefore, correlation of the physical and behavioral findings with the extent of the deletion will help identify the genes involved. An understanding of the molecular mechanisms of the phenotype will provide the insight necessary to devise appropriate therapies.
Our goals are:
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18
- •Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies)
- •General health status: good
排除标准
- •Pregnant women
- •Dead fetuses
- •Prisoners
- •Non-viable neonates or neonates of uncertain viability
结局指标
主要结局
Primary
时间窗: Ongoing
Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities
次要结局
未报告次要终点