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Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients

Completed
Conditions
Fabry Disease
Interventions
Procedure: Contrast sensitivity measurement
Procedure: Slit Lamp assessment and intra-ocular pressure measurement
Procedure: Visual field testing
Procedure: Oxygen flow at the optic nerve head measurement
Device: OSOME
Registration Number
NCT02023086
Lead Sponsor
Université de Montréal
Brief Summary

This study aims to evaluate blood oxygenation at the optic nerve head in relation with visual field losses observed in many Fabry patients. Data collected will allow to evaluate if there is a link between these two entities.

Study will last up to 2 years during which a limited number of Fabry patients will be compared to a control group to confirm any relationship between blood flow and field losses, and to see if these results vary over time.

HYPOTHESIS

1. Fabry patients will present significant differences in visual fields compared to control 2 There will be variability of the visual field defects on the long term but not on the short term 3 Blood oxygenation will be higher for Fabry patients 4 Blood volume at the optic nerve head will be the same for both groups.

Detailed Description

The first subjects who meet the following criteria will be enrolled in the study.

Inclusion criteria (Fabry group ):

* Aged over 18 years old

* Being diagnosed with Fabry disease

* 3 subjects will be under enzyme replacement treatment for the treatment of Fabry disease.

* 3 subjects will not receive enzyme replacement treatment

* Is fit to give legal consent.

* Is available for a period of 2 years

Inclusion criteria (CONTROL group ):

* Matched for age and sex with group A - 6 participants

* Being healthy, with no known chronic systemic disease nor acute disease at the moment of the recruitment

* Is fit to give legal consent.

* Is available for a period of 2 years

Exclusion criteria (Both groups):

* Presents with an active pathological ocular condition

* Presence of an abnormal optic nerve (congenital or acquired)

* Usage of topical ocular drug(s) at the time of selection

* To have known allergy to topical diagnostic drugs used in this study

* Usage of systemic medication with known effect on the visual field

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
8
Inclusion Criteria

Inclusion criteria (Fabry group):

  • Aged over 18 years old

  • Being diagnosed with Fabry disease

    • 3 subjects will be under enzyme replacement treatment for the treatment of Fabry disease.
    • 3 subjects will not receive enzyme replacement treatment
  • Is fit to give legal consent.

  • Is available for a period of 2 years

Inclusion criteria (CONTROL group):

  • Matched for age and sex with group A - 6 participants
  • Being healthy, with no known chronic systemic disease nor acute disease at the moment of the recruitment
  • Is fit to give legal consent.
  • Is available for a period of 2 years
Exclusion Criteria

( both groups):

  • Presents with an active pathological ocular condition
  • Presence of an abnormal optic nerve (congenital or acquired)
  • Usage of topical ocular drug(s) at the time of selection
  • To have known allergy to topical diagnostic drugs used in this study
  • Usage of systemic medication with known effect on the visual field

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
FABRY groupContrast sensitivity measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
FABRY groupSlit Lamp assessment and intra-ocular pressure measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
FABRY groupVisual field testing* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
FABRY groupOxygen flow at the optic nerve head measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
FABRY groupOSOME* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
CONTROL group (Historical database)Contrast sensitivity measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
CONTROL group (Historical database)Slit Lamp assessment and intra-ocular pressure measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
CONTROL group (Historical database)Visual field testing* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
CONTROL group (Historical database)Oxygen flow at the optic nerve head measurement* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
CONTROL group (Historical database)Tropicamide* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
CONTROL group (Historical database)OSOME* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * oxygen flow at the optic nerve head measurement (OSOME) * Under tropicamide
FABRY groupTropicamide* contrast sensitivity measurement * slit lamp assessment and intra-ocular pressure measurement * ocular coherence tomography at the optic nerve head * visual field testing * OSOME (oxygen flow at the optic nerve head measurement) * Tropicamide
Primary Outcome Measures
NameTimeMethod
Blood Oxygenation at the Optic Nerve Head2 years

OSOME measurement of the blood oxygenation at the optic nerve head

Secondary Outcome Measures
NameTimeMethod
Field Defect2 years

Visual field defect using Frequency Doubling Technology (FDT)

Results from FDT perimetry are reported using decibels of sensitivity. FDT perimetry has a manufacturer-provided internal normative database. (Deviation Plot). Results are compared to the normative database are shown on a gray scale plot based on probability levels. Screening tests preformed with the -5 screening test index ranges from P≥5% (worst) to P\<1% (better)

The global indices that are reported are the mean deviation (MD) and pattern standard deviation (PSD). MD values that fall below 5%, 2% 1% or 0.5 % normal probability levels are indicated with the appropriate label. Pattern Standard Deviation (PSD) represents how evenly the field loss is spread across the VF, thus indicative of localized loss. The PSD can only be equal to or greater than zero. The higher the PSD value, the greater the amount of irregularities with steeper slopes in the VF.

Trial Locations

Locations (1)

Universite de Montreal

🇨🇦

Montreal, Quebec, Canada

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