Clinical trial NCT02023086: Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
Official title: Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Relation With Visual Field Loss in Fabry Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Visual field defect
Blood oxygenation
Optic nerve Head
Lead sponsor: Université de Montréal
Sponsor class: OTHER
Collaborators: name: Genzyme, a Sanofi Company
First posted: 2013-12-30
Enrollment: 8
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients known as Fabry patients, already followed at Universite de Montréal eye clinic. COntrol will come from the normal clinical population seen at the same site.

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

Study lasted 2 years during which a limited number of Fabry patients had been compared to a control group to confirm any relationship between blood flow and field losses, and to see if these results varied 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

Eligibility criteria: 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

Primary outcomes:
measure: Blood Oxygenation at the Optic Nerve Head
timeFrame: 2 years
Secondary outcomes:
measure: Field Defect
timeFrame: 2 years
Other outcomes:
Locations:
city: Montreal
country: Canada
facility: Universite de Montreal
state: Quebec
Study officials:
affiliation: Universite de Montreal
name: Langis Michaud, OD M.Sc.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Pitz S, Grube-Einwald K, Renieri G, Reinke J. Subclinical optic neuropathy in Fabry disease. Ophthalmic Genet. 2009 Dec;30(4):165-71. doi: 10.3109/13816810903148004.
citation: Kumagai K, Mitamura Y, Mizunoya S, Fujimoto N, Yamamoto S. A case of anterior ischemic optic neuropathy associated with Fabry's disease. Jpn J Ophthalmol. 2008 Sep-Oct;52(5):421-423. doi: 10.1007/s10384-008-0572-4. Epub 2008 Nov 11. No abstract available.
citation: Feke GT, Riva CE. Laser Doppler measurements of blood velocity in human retinal vessels. J Opt Soc Am. 1978 Apr;68(4):526-31. doi: 10.1364/josa.68.000526.
citation: Diaconu V. Multichannel spectroreflectometry: a noninvasive method for assessment of on-line hemoglobin derivatives. Appl Opt. 2009 Apr 1;48(10):D52-61. doi: 10.1364/ao.48.000d52.