Interventional Controlled Cross-sectional Study Assessing the Correlation Between Optic Nerve Vessels Anomalies, Serum Angiogenic Factors and Renal Anomalies in Children With Down Syndrome.
试验速览
- 阶段
- 不适用
- 入组人数
- 200
- 试验地点
- 2
- 主要终点
- Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin
研究概览
简要总结
In approximately half of individuals with Down syndrome, an higher than normal number of vessels cross the optic disc margin. Investigator hypothesize that early retinal vessel branching occurs due to inhibition of angiogenesis by triplet overexpression of endostatin, an angiogenesis inhibitor encoded on chromosome 21. Since angiogenesis is critical in the development of eyes and other organs angiogenesis depended (specially kidney, brain, and recently described lungs and heart), early branching of retinal vessels at the level of the optic disc would also likely result in abnormal renal and other organs development in these individuals. Investigator wish to determine whether observation of optic disc vessels may serve as an indicator of elevated endostatin levels and other angiogenesis-dependent organs anomalies.
详细描述
Investigator will measure the serum levels of endostatin as well as others angiogenetic factors in Down syndrome children versus control group 1 constituted by the patient mothers.
Investigator will also perform renal and low urinary tract Doppler ultrasound with measurement of renal dimension in order to determine if the kidneys of patients with high level of serum of endostatin are smaller than those of patients with normal level of endostatin. Data observed in Down syndrome children will be compared to control group 2age constituted by sex and age matched healthy children Urine microalbuminuria and urine microalbuminuria/creatinuria from the first urine in the morning will be evaluated.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Provision of personally signed and dated informed consent document by adult subject or parents
- •When capable of providing assent, provision of personally signed and dated informed assent document by children
- •Subjects and/or their caregivers/parents are willing and able to comply with scheduled laboratory tests, and other required study procedures.
排除标准
- •Inability to cooperate with study related examination
- •For "Study Group" subjects
- •Known chronic diseases unrelated to their triallelic condition For "Control Group n°1" & "Control Group n°3"
- •General disease in which the level of endostatin may be modified such as leukemia, cancers, inflammatory diseases (e.g.: rheumatoid arthritis, Crohn's disease, psoriasis)
- •Any condition that may cause a hypoxia
- •Pregnancy
- •For "Control Group n°2":
- •Healthy children except benign ophthalmological refraction anomalies
- •Any known renal or low urinary tract diseases.
研究组 & 干预措施
Study group
Down Syndrome children
干预措施: Funduscopic examination and retinal photography (Diagnostic Test)
Study group
Down Syndrome children
干预措施: Serum levels of endostatin and angiogenesis factors (Diagnostic Test)
Study group
Down Syndrome children
干预措施: Renal and low urinary tract Doppler ultrasound (Diagnostic Test)
Study group
Down Syndrome children
干预措施: Urinalysis (Diagnostic Test)
Study group
Down Syndrome children
干预措施: Anthropometric measures and vitals signs (Diagnostic Test)
Control group n°1
Down Syndrome children's mothers
干预措施: Funduscopic examination and retinal photography (Diagnostic Test)
Control group n°1
Down Syndrome children's mothers
干预措施: Serum levels of endostatin and angiogenesis factors (Diagnostic Test)
Control group n°2
Age and sex matched healthy children
干预措施: Funduscopic examination and retinal photography (Diagnostic Test)
Control group n°2
Age and sex matched healthy children
干预措施: Renal and low urinary tract Doppler ultrasound (Diagnostic Test)
Control group n°2
Age and sex matched healthy children
干预措施: Urinalysis (Diagnostic Test)
Control group n°2
Age and sex matched healthy children
干预措施: Anthropometric measures and vitals signs (Diagnostic Test)
Control group n°3
Down syndrome children's healthy siblings
干预措施: Funduscopic examination and retinal photography (Diagnostic Test)
Control group n°3
Down syndrome children's healthy siblings
干预措施: Serum levels of endostatin and angiogenesis factors (Diagnostic Test)
结局指标
主要结局
Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin
时间窗: 18 months
correlation coefficent
次要结局
- Correlation between the number of retinal vessels crossing the optic disc and serum level of other angiogenic factors(18 months)
- Correlation between serum level of endostatin and serum level of other angiogenic factors(18 months)
- Description of renal anomalies in Down syndrome.(18 months)
- Comparison of prevalence of renal anomalies between Down syndrome and healthy subjects(18 months)
- Correlation between the number of optic nerve vessels and the presence of organs pathologies(18 months)
- Correlation between serum level of angiogenesis factors and the presence of organs pathologies(18 months)