NCT03799705已完成不适用
Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 132
- 试验地点
- 1
- 主要终点
- Targeted metabolomics
研究概览
简要总结
Researchers are trying to identify versions of genes as well as factors in subjects blood associated with certain types of congenital malformations(CMs). This study will help the researchers to better understand family traits that contribute to CMs.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adults with confirmed or putative diagnosis of VACTERL association;
- •Families (mother, father, biological offspring) with a history of VACTERL-associated malformations
- •Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations
- •Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection
排除标准
- •Parents of non-biological children 3) Children with congenital malformations associated with an identifiable environmental or lifestyle exposure 4) Children with congenital malformations associated with confirmed chromosomal disorders 5) Failure to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection.
结局指标
主要结局
Targeted metabolomics
时间窗: 2 years
Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association
Genetic variants
时间窗: 2 years
Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.
次要结局
未报告次要终点
研究者
研究点 (1)
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