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

Queen Fabiola Children's University Hospital

Status: Unknown

Conditions: Down Syndrome

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

Study type: Interventional

Funder types: Other

Identifiers

NCT03206957

P2017/Ophtalmo/DOPANUR

Details and patient eligibility

About

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.

Full 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.

Enrollment: 200 estimated patients

Sex: All

Ages: Under 17 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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200 participants in 4 patient groups

Study group

Other group

Description:

Down Syndrome children

Treatment:

Diagnostic Test: Urinalysis

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: Anthropometric measures and vitals signs

Control group n°1

Other group

Description:

Down Syndrome children's mothers

Treatment:

Diagnostic Test: Funduscopic examination and retinal photography

Diagnostic Test: Serum levels of endostatin and angiogenesis factors

Control group n°2

Other group

Description:

Age and sex matched healthy children

Treatment:

Diagnostic Test: Urinalysis

Diagnostic Test: Funduscopic examination and retinal photography

Diagnostic Test: Renal and low urinary tract Doppler ultrasound

Diagnostic Test: Anthropometric measures and vitals signs

Control group n°3

Other group

Description:

Down syndrome children's healthy siblings

Treatment:

Diagnostic Test: Funduscopic examination and retinal photography

Diagnostic Test: Serum levels of endostatin and angiogenesis factors