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

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.

Conditions

• Down Syndrome

Interventions

DIAGNOSTIC_TEST

Funduscopic examination and retinal photography

A standardized funduscopic examination and retinal photography will be performed by an ophthalmologist focusing on optic nerve.

DIAGNOSTIC_TEST

Serum levels of endostatin and angiogenesis factors

Serum levels of endostatin, angiopoietin and vaso endothelial growth factor will be analyzed

DIAGNOSTIC_TEST

Renal and low urinary tract Doppler ultrasound

Measurements of each kidney will include maximum renal bipolar length in a sagittal plane, renal width and thickness in an axial plane perpendicular to each other at the level of renal hilum and cortical thickness. Intensity of corticomedullary differentiation will estimated. Doppler ultrasound examination will assess renal arterial resistivity indexes

DIAGNOSTIC_TEST

Urinalysis

Urinalysis assessments will include assessments of microalbuminuria and microalbuminuria to creatinuria ratio. A spot urine sample will be collected from first morning void.

DIAGNOSTIC_TEST

Anthropometric measures and vitals signs

weight, height and blood pressure will be assessed

Sponsors & Collaborators

• Queen Fabiola Children's University Hospital

  lead OTHER

Principal Investigators

• Lavina Postolache, MD · Queen Fabiola Children's University Hospital

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Max Age

17 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2017-11-30

Primary Completion

2019-06-01

Completion

2019-06-01

Countries

• Belgium

Study Locations