NCT03206957

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
200

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Nov 2017

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

June 27, 2017

Completed
5 days until next milestone

First Posted

Study publicly available on registry

July 2, 2017

Completed
5 months until next milestone

Study Start

First participant enrolled

November 30, 2017

Completed
1.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2019

Completed
Last Updated

July 5, 2018

Status Verified

July 1, 2018

Enrollment Period

1.5 years

First QC Date

June 27, 2017

Last Update Submit

July 3, 2018

Conditions

Outcome Measures

Primary Outcomes (1)

  • Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin

    correlation coefficent

    18 months

Secondary Outcomes (6)

  • 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

  • +1 more secondary outcomes

Study Arms (4)

Study group

OTHER

Down Syndrome children

Diagnostic Test: Funduscopic examination and retinal photographyDiagnostic Test: Serum levels of endostatin and angiogenesis factorsDiagnostic Test: Renal and low urinary tract Doppler ultrasoundDiagnostic Test: UrinalysisDiagnostic Test: Anthropometric measures and vitals signs

Control group n°1

OTHER

Down Syndrome children's mothers

Diagnostic Test: Funduscopic examination and retinal photographyDiagnostic Test: Serum levels of endostatin and angiogenesis factors

Control group n°2

OTHER

Age and sex matched healthy children

Diagnostic Test: Funduscopic examination and retinal photographyDiagnostic Test: Renal and low urinary tract Doppler ultrasoundDiagnostic Test: UrinalysisDiagnostic Test: Anthropometric measures and vitals signs

Control group n°3

OTHER

Down syndrome children's healthy siblings

Diagnostic Test: Funduscopic examination and retinal photographyDiagnostic Test: Serum levels of endostatin and angiogenesis factors

Interventions

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

Control group n°1Control group n°2Control group n°3Study group

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

Control group n°1Control group n°3Study group

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

Control group n°2Study group
UrinalysisDIAGNOSTIC_TEST

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

Control group n°2Study group

weight, height and blood pressure will be assessed

Control group n°2Study group

Eligibility Criteria

AgeUp to 17 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17)

You may qualify if:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Hôpital Universitaire Des Enfants Reine Fabiola

Brussels, 1020, Belgium

RECRUITING

MeSH Terms

Conditions

Down Syndrome

Interventions

Urinalysis

Condition Hierarchy (Ancestors)

Intellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesChromosome DisordersGenetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Clinical Chemistry TestsClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisDiagnostic Techniques, UrologicalInvestigative Techniques

Study Officials

  • Lavina Postolache, MD

    Queen Fabiola Children's University Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
PARALLEL
Model Details: Interventional controlled cross-sectional study
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 27, 2017

First Posted

July 2, 2017

Study Start

November 30, 2017

Primary Completion

June 1, 2019

Study Completion

June 1, 2019

Last Updated

July 5, 2018

Record last verified: 2018-07

Data Sharing

IPD Sharing
Will not share

Locations