Immunogenomic Analyses of Pediatric Catatonia
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 120
- 主要终点
- Diagnostic rate of whole genome sequencing
研究概览
简要总结
Rady Children's Institute for Genomic Medicine seeks to understand the genomes and immune systems in 40 children and adolescents who are admitted to Rady Children's Hospital San Diego with a catatonia diagnosis. Cutting-edge genome and protein sequencing technology will be used to better understand how immunological and genetic assessments may improve the ability to identify the cause of catatonia and impact care. The investigator also hopes to identify new genetic and/or autoimmune causes of catatonia that may inform new treatment for future patients.
详细描述
Catatonia is a complex condition that affects children's behavior, movement, and emotions. It can be caused by various underlying health issues, such as genetic disorders or problems with the immune system. Identifying these underlying causes is crucial for providing the best care and treatment to affected children. In this study, the investigators aim to compare the effectiveness of traditional medical tests with a more advanced approach that includes genetic testing and immune system screening in finding the underlying causes of catatonia in children. The investigators will compare two groups of children with catatonia. One group will be identified from hospital records and will have undergone standard medical tests to find the cause of their catatonia. The other group will be a new set of patients who will receive both standard medical tests and additional advanced testing, including genome sequencing (a technique that reads the entire genetic code) and screening for antibodies that attack the brain. The investigators will use a statistical method called propensity score matching to make sure that the two groups are as similar as possible in terms of age, sex, and other relevant factors. This will help the investigators to fairly compare the effectiveness of the two approaches in identifying the underlying causes of catatonia. The investigators expect that combining standard medical tests with genome sequencing and autoantibody screening will be more effective in finding the underlying causes of catatonia in children compared to using standard medical tests alone. This could lead to more accurate diagnoses and more targeted treatments for children with catatonia, helping them to recover more quickly and improving their quality of life. If this study shows that the advanced testing approach is more effective in finding the underlying causes of catatonia, this could change the way doctors approach the diagnosis and treatment of this complex condition. In turn, this could lead to more accurate diagnoses, tailored treatments, and improved outcomes for children with catatonia and their families.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 0 Years 至 17 Years(Child)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individual in whom one of the following criteria is met:
- •Child/adolescent Ages 0-17 (2) with a diagnosis of catatonia.
- •Biological parents of child/adolescent enrolled in this study for the purposes of reflex testing. Family members are eligible for participation in this study if they are presumed to be genetically related to a patient participant
排除标准
- •Child/adolescents patients who do not meet any of the inclusion criteria, or those who:
- •Already received any prior whole genome sequencing or exome sequencing.
- •Unable to approach the family or patient for enrollment.
- •Unable to obtain informed consent.
- •Family members are ineligible for participation in this study if:
- •They are known to not be genetically related to the child/adolescent patient participant
结局指标
主要结局
Diagnostic rate of whole genome sequencing
时间窗: 2 years
Evaluate the impact of whole genome sequencing on diagnostic yield in pediatric catatonia, compared to standard medical workup.
Diagnostic rate of brain reactive autoantibodies
时间窗: 2 years
Diagnostic rate of brain reactive autoantibodies via genomic and whole human proteome programmable phage display immunoprecipitation sequencing (PhIP-Seq)
次要结局
未报告次要终点
研究者
Aaron Besterman
Health Sciences Associate Clinical Professor, UCSD Department of Psychiatry Clinical Investigator, Rady Children's Institute for Genomic Medicine Child & Adolescent Psychiatrist, Rady Children's Hospital San Diego
Rady Pediatric Genomics & Systems Medicine Institute
