Study to Identify Rare Genetic Variants Causing Severe Early Childhood Obesity
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
- Identification of known or novel genetic variants in genes that underlie obesity.
研究概览
简要总结
This study aims to investigate genetic causes of early childhood obesity.
The investigators will enroll children and young adults with severe early onset obesity (BMI > 99th percentile) diagnosed prior to 6 years of age. The investigators will ask questions about the health and eating behavior of the participants, and perform a brief physical examination. The investigators will collect saliva or blood to perform genetic testing from the participants and invite family members to enroll in the study.
详细描述
This is a clinical and genomic study designed to investigate monogenic causes of severe early childhood obesity.
Participants with severe early onset obesity will be identified by screening of the clinical database or referred for the study. These subjects will be invited to participate in the study. After obtaining informed consent, the investigators will obtain history on the proband and the family, and perform a brief examination in addition to collecting genetic material.
Targeted sequencing of genes associated with monogenic and syndromic forms of obesity will be performed using next-generation sequencing. In selected individuals with favorable family history, exome or whole genome sequencing will be performed. Functional analysis of newly identified variants will be performed where possible.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •- BMI > 99th percentile documented at age < 6 years of age
排除标准
- •Known genetic causes of obesity
- •Known Endocrine causes of obesity.
- •Neurologic tumor, trauma or surgery
- •Prior malignancy or transplant
- •Known autoimmune diseases
- •Edema of a known or unknown cause
- •Prolonged steroid use.
结局指标
主要结局
Identification of known or novel genetic variants in genes that underlie obesity.
时间窗: 1.5-2 years
Identification of known or novel genetic variants in genes that underlie obesity.
次要结局
- Prevalence of melanocortin receptor 4 mutations.(2 years)
研究者
Vidhu V. Thaker
Assistant Professor
Columbia University