Children's Autism Metabolome Project (CAMP): Development and Clinical Evaluation of the Stemina Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood
试验速览
- 阶段
- 不适用
- 入组人数
- 1,102
- 试验地点
- 8
- 主要终点
- Metabolites in plasma indicative of autism spectrum disorder.
研究概览
简要总结
Development and Clinical Evaluation of the Stemina Metabolic Biomarker-Based Test to Diagnose Autism Spectrum Disorder in Early Childhood.
详细描述
The purpose of this study is to identify metabolitic signatures in blood plasma and/or urine using a panel of biomarker metabolites that differentiate children with autism spectrum disorder (ASD) from children with delayed development (DD) and/or typical development (TD), to develop an algorithm that maximizes sensitivity and specificity of the biomarker profile, and to evaluate the overall algorithm as a diagnostic tool.
A secondary objective is to define metabolites capable of classifying subtypes of ASD that may increase understanding of the metabolic basis of the condition, as well as inform on personalized therapy.
The population targeted for this study includes children aged 18 months to 48 months, diagnosed with ASD or DD using behavioral criteria, and TD children, identified as having no indications of ASD or DD using behavioral criteria. The original target size for the study was 1500 subjects divided equally between the three groups. The targeted male:female ratio is 4:1 in all three groups. During the study, it was determined that biomarkers capable of identifying ASD subjects could be obtained using a total of 1100 subjects divided with 58% ASD, 25%TD, and 17% DD. If the diagnostic biomarkers identified in the study do not perform well in females during the biomarker discovery phase, the study may be expanded to recruit more females to examine the possibility of a female-specific diagnostic test.
Subjects will be qualified for entry into the study and will be invited to participate. On the first study day, subjects' parents will sign an informed consent form and will be asked questions on the mother's pregnancy and of both parents' medical history. A complete medical history, a physical examination, and information needed to obtain a diagnosis of ASD, DD, or TD will be obtained on the study subject. If possible, a urine sample will be collected during the visit. Up to four tubes of blood (<25 mLs total) will be drawn at the clinic during the visit or within 14 days following this initial visit. An overnight fast is required prior to the visit where blood will be taken from the subject. A subset of the subjects will be asked to return to the clinic 30-60 days later to obtain a replicate metabolic profile.
The study will be divided into a biomarker discovery/method development phase followed by a validation phase of the analytical methods and algorithm that will be used in the clinical test.
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
- 18 Months 至 48 Months（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age of greater or equal to 18 months and less than or equal to 48 months
- •Fulfills the definition of an autism spectrum disorder, developmentally delayed, or typically developing child in the age range 18-48 months, as determined by a clinician or certified practitioner of the appropriate tests and who is knowledgeable in the field; and
- •Has parental (or other legal guardian ) informed consent to participate.
排除标准
- •Diagnosis with a chronic condition that could interfere with a diagnosis of ASD or DD, (e.g.: a known history of Fragile X, Rett syndrome, Down syndrome, tuberous sclerosis, trisomy 21, inborn errors of metabolism or other genetic disorder that includes some symptoms of autism)
- •Fetal alcohol syndrome, or other serious neurological disorder
- •Other serious metabolic disorder, psychiatric disorder, or medical condition involving the liver, kidney, pulmonary, cardiovascular or endocrine systems
- •A second child within a family in which a sibling has already been enrolled.
- •A child who has previously participated in the CAMP-01 study
结局指标
主要结局
Metabolites in plasma indicative of autism spectrum disorder.
时间窗: Within 60 months of sample collection
Study participants were randomized into two independent groups: a biomarker discovery/method development (training set) and a validation set. The validation set is used to assess the performance of the biomarkers identified in the training set once the analytical methods and algorithms are developed using the training set. These biomarkers and algorithms will be used in the clinical diagnostic tests. Using this approach and CLIA validated assays, two diagnostic panels are now able to correctly identify metabolic signatures in 53% of the ASD population in the CAMP study with a specificity of 91% when tested against the validation set of subject samples.
次要结局
- Metabolites in plasma that are specific for subtypes of autism spectrum disorder(Within 60 months of sample collection)