Proteomic Biomarker Tests in Blood Samples from Children with Autism Spectrum Disorder (ASD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 900
- 试验地点
- 1
- 主要终点
- Identification of discriminating proteomic biomarker profile in blood of children with ASD vs. matched TD children
研究概览
简要总结
Behavioral testing is the gold standard for diagnosing autism spectrum disorder (ASD). These tests, including ADOS and ADI-R, are subjective, require trained staff to administer, are time-consuming, and can only be administered at a later age. Blood-, urine- or stool-based diagnostic biomarker test for ASD would enable objective early diagnosis, potentially even before clinical symptoms are present, eliminate the need for trained staff and enable early intervention. Such a test would not only conserve money and time but would also provide clues to ASD pathogenesis.
To date, no definitive treatment exists for ASD. Most therapies are symptom-focused, generally focusing on behavioral, social and communication skills. Recent works have reported on promising outcomes of mesenchymal stem cell (MSC) treatment of children with ASD. MSCs are multipotent, non-hematopoietic, easily isolatable and expandable stem cells involved in tissue repair, immunomodulatory responses and neuromodulation. MSC treatment of children with ASD has reportedly led to improvements in speech, sociability, eye coordination, balance, cognition and overall well-being. At the base of this approach lies the known plasticity of the human brain and immune system in the early childhood years and the ability of MSCs to modulate atypical inflammatory and immune activities. Assessment of ASD biomarker profiles in children with ASD who have undergone one or more SCT sessions may shed light on the mechanism of action, assist in better defining ASD-specific diagnostic markers and monitor treatment outcomes.
详细描述
There is accumulating evidence that at least a subset of children diagnosed with ASD also have aberrant immune functions. This study will attempt to identify more specifically the nature of the potential immune abnormalities in children.
The study will follow a case-control design, involving the following cohorts:
- young children (2-12 years) diagnosed with ASD
- children (12-18 years) diagnosed with ASD
- age- and sex-matched typically developing children
- high-risk infants (10-19 months) with at least one sibling with diagnosed ASD
- mothers of these high-risk infants
- young children (2-12 years) diagnosed with ASD and scheduled to undergo stem cell transplantation therapy (SCT)
Parents will be asked to complete several questionnaires relating to demographic and anamnestic details and to the child's development.
- A single blood draw from all participants will be performed in the clinic.
- A stool sample will be collected from high-risk infants.
- A stool and urine sample will be collected at home from children due to undergo SCT. For children scheduled to undergo SCT, the blood, stool and urine samples must be collected before therapy.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 10 Months 至 19 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Male and female children
- •Child aged 2-12 years with diagnosed ASD according to Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV (299.00) or DSM-V (299.00) OR Child aged 2-18 years diagnosed ASD according to DSM-IV (299.00) or DSM-V (299.00) AND scheduled to undergo stem cell transplantation OR Child aged 10-19 months not diagnosed with ASD but with a sibling diagnosed with ASD according to (DSM)-IV (299.00) or DSM-V (299.00) (herein termed "high-risk infants") OR Mothers of recruited high-risk infants OR A typically developing child aged 2-12 years with no signs of ASD or history of ASD in the immediate family
- •Informed consent signed by the parent/legal guardian
排除标准
- •Child and/or mother completed treatment with systemic steroids or immune suppressants less than 4 weeks before the screening visit
- •Child and/or mother diagnosed with severe infectious diseases or sepsis over the last 6 months
- •Child with ASD treated for a severe convulsive disorder (intractable seizures)
- •Child and/or mother with hematological or malignant disorder
- •For children in the SCT cohort: No new planned immune-modulating treatment (other than SCT) for at least 6 months before or after planned stem cell transplantation date
- •If the PI suspects that the participant will not comply with study requirements, the participant may be excluded.
结局指标
主要结局
Identification of discriminating proteomic biomarker profile in blood of children with ASD vs. matched TD children
时间窗: One day
Finding a proteomic signature in children with ASD
Identification of discriminating proteomic biomarker profiles in blood of high-risk infants, at recruitment vs. after diagnosis of ASD, if diagnosed
时间窗: Up to 5 years after initial blood draw
Finding a proteomic signature in infants at high-risk of ASD
Comparison of blood biomarker profiles in ASD children before versus after SCT
时间窗: Through study completion, up to 6 months
Finding ASD-specific blood proteomic biomarkers that can be modified by SCT
次要结局
- ASD severity vs. blood biomarker levels(Through study, up to 5 years, depending on cohort)
- Blood biomarker levels and SCT outcomes(Through study completion, up to 6 months)
研究者
Benjamin Gesundheit
CEO
Cell El Ltd