Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children

Not Applicable

• Conditions: Down Syndrome
• Interventions: Diagnostic Test: Funduscopic examination and retinal photography; Diagnostic Test: Serum levels of endostatin and angiogenesis factors; Diagnostic Test: Renal and low urinary tract Doppler ultrasound; Diagnostic Test: Urinalysis; Diagnostic Test: Anthropometric measures and vitals signs

• Registration Number: NCT03206957
• Lead Sponsor: Queen Fabiola Children's University Hospital

Brief Summary

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.

Detailed Description

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.

Study Timeline

• Study First Submitted: 2017-06-27
• Study First Submitted QC: 2017-06-30
• Study First Posted: 2017-07-02
• Study Start: 2017-11-30
• Status Verified: 2018-07
• Last Update Submitted: 2018-07-03
• Last Update Posted: 2018-07-05
• Primary Completion: 2019-06-01
• Study Completion: 2019-06-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

• 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.

Exclusion Criteria

• 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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Study group	Serum levels of endostatin and angiogenesis factors	Down Syndrome children
Study group	Renal and low urinary tract Doppler ultrasound	Down Syndrome children
Study group	Anthropometric measures and vitals signs	Down Syndrome children
Control group n°2	Renal and low urinary tract Doppler ultrasound	Age and sex matched healthy children
Control group n°2	Urinalysis	Age and sex matched healthy children
Control group n°2	Funduscopic examination and retinal photography	Age and sex matched healthy children
Study group	Funduscopic examination and retinal photography	Down Syndrome children
Study group	Urinalysis	Down Syndrome children
Control group n°1	Serum levels of endostatin and angiogenesis factors	Down Syndrome children's mothers
Control group n°2	Anthropometric measures and vitals signs	Age and sex matched healthy children
Control group n°3	Serum levels of endostatin and angiogenesis factors	Down syndrome children's healthy siblings
Control group n°1	Funduscopic examination and retinal photography	Down Syndrome children's mothers
Control group n°3	Funduscopic examination and retinal photography	Down syndrome children's healthy siblings

Primary Outcome Measures

Name	Time	Method
Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin	18 months	correlation coefficent

Secondary Outcome Measures

Name	Time	Method
Correlation between the number of retinal vessels crossing the optic disc and serum level of other angiogenic factors	18 months	correlation coefficent
Correlation between serum level of endostatin and serum level of other angiogenic factors	18 months	correlation coefficient
Description of renal anomalies in Down syndrome.	18 months	absolute number and type of renal anomalies
Comparison of prevalence of renal anomalies between Down syndrome and healthy subjects	18 months	Proportion and type of disease
Correlation between the number of optic nerve vessels and the presence of organs pathologies	18 months	correlation coefficient
Correlation between serum level of angiogenesis factors and the presence of organs pathologies	18 months	correlation coefficient

Trial Locations

Locations (1)

Hôpital Universitaire Des Enfants Reine Fabiola; 🇧🇪 Brussels, Belgium