Biology Study of Transient Myeloproliferative Disorder (TMD) in Children With Down Syndrome (DS)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 180
- 试验地点
- 189
- 主要终点
- Event-free survival
研究概览
简要总结
This research study is looking at blood samples from newborns with Down syndrome. Studying the genes expressed in samples of blood from patients with Down syndrome may help doctors identify biomarkers related to cancer.
详细描述
PRIMARY OBJECTIVES:
I. To further our biological understanding of the natural history of transient myeloproliferative disorder (TMD) and its relationship to subsequent leukemia by facilitating the development of a TMD cell and protein bank, and repository of DNA/RNA from megakaryoblasts for future biological studies.
II. To investigate the biology of TMD molecular changes associated with resolution of TMD or its conversion to acute myeloid leukemia within each mortality-risk group by conducting GATA1 mutational analyses, hematopoiesis clonality studies, assessment of RAS mutations, and genomic instability studies using glycophorin A assays.
III. To determine if high-resolution microarray genomic analysis of TMD blasts (using Affymetrix SNP Genechip technology to assess gene expression, copy number variation, and loss of heterozygosity) can predict the development of subsequent leukemia.
IV. To determine the relationship of minimal residual disease (monitored by peripheral blood flow cytometry and GATA1 mutational studies) to clinical remission status and development of subsequent leukemia within each mortality-risk group of TMD patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 90 Days（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of transient myeloproliferative disorder (TMD) at < 90 days of age and meeting 1 of the following criteria:
- •A diagnosis of Down syndrome or Down syndrome mosaicism AND non-erythroid and non-lymphoid blasts (any amount) in the peripheral blood verified with a second sample
- •Patients with typical physical characteristics of Down syndrome are allowed before cytogenetic or FISH confirmation of the diagnosis
- •Trisomy 21-positive leukemic blasts documented by biopsy of any organ (including > 5% non-erythroid/non-lymphoid blasts documented by bone marrow aspirate or biopsy)
- •Infants with isolated trisomy 21 positivity identified only in the leukemic blasts are allowed
- •Institutional immunophenotype characterization is required for study enrollment
排除标准
- 未提供
结局指标
主要结局
Event-free survival
时间窗: Up to 5 years
次要结局
- Overall survival(Up to 5 years)
- Incidence of TMD-related mortality(Up to 5 years)
- Incidence of subsequent leukemia for patients with resolved TMD(Up to 5 years)