Clinical trial NCT03206957: Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children
Official title: Interventional Controlled Cross-sectional Study Assessing the Correlation Between Optic Nerve Vessels Anomalies, Serum Angiogenic Factors and Renal Anomalies in Children With Down Syndrome.
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Down Syndrome
Lead sponsor: Queen Fabiola Children's University Hospital
Sponsor class: OTHER
First posted: 2017-07-02
Enrollment: 200
Sex: ALL
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Intervention model description: Interventional controlled cross-sectional study
Primary purpose: DIAGNOSTIC

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin
timeFrame: 18 months
Secondary outcomes:
measure: Correlation between the number of retinal vessels crossing the optic disc and serum level of other angiogenic factors
timeFrame: 18 months
measure: Correlation between serum level of endostatin and serum level of other angiogenic factors
timeFrame: 18 months
measure: Description of renal anomalies in Down syndrome.
timeFrame: 18 months
measure: Comparison of prevalence of renal anomalies between Down syndrome and healthy subjects
timeFrame: 18 months
measure: Correlation between the number of optic nerve vessels and the presence of organs pathologies
timeFrame: 18 months
measure: Correlation between serum level of angiogenesis factors and the presence of organs pathologies
timeFrame: 18 months
Other outcomes:
Locations:
city: Brussels
country: Belgium
facility: Hôpital Universitaire Des Enfants Reine Fabiola
Study officials:
affiliation: Queen Fabiola Children's University Hospital
name: Lavina Postolache, MD
role: PRINCIPAL_INVESTIGATOR
References: