Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Genzyme, a Sanofi Company | INDUSTRY |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
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
Is fit to give legal consent.
Is available for a period of 2 years
Inclusion criteria (CONTROL group ):
Exclusion criteria (Both groups):
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| FABRY group |
|
| |
| CONTROL group (Historical database) |
|
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Contrast sensitivity measurement | Procedure | Contrast sensitivity test is made with targets alternating black and white lines. The larger the lines are, easier it is to see them. Targets are distributed in 5 rows, each oriented at a different angle. Contrast sensitivity level is determined by the smallest target seen by the participant, line by line. This test is done under dim lightning with the habitual visual correction worn. |
| Measure | Description | Time Frame |
|---|---|---|
| Blood Oxygenation at the Optic Nerve Head | OSOME measurement of the blood oxygenation at the optic nerve head | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Field Defect | 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. |
Not provided
Inclusion Criteria:
Inclusion criteria (Fabry group):
Aged over 18 years old
Being diagnosed with Fabry disease
Is fit to give legal consent.
Is available for a period of 2 years
Inclusion criteria (CONTROL group):
Exclusion Criteria:( both groups):
Not provided
Not provided
Not provided
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.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Langis Michaud, OD M.Sc. | Universite de Montreal | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Universite de Montreal | Montreal | Quebec | H3T1P1 | Canada |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 19852573 | Background | 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. | |
| 18991052 | Background | 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. |
| Label | URL |
|---|---|
| web site of the School of Optometry University of Montreal | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Historic control group. Data collected from the files of patients - matched for age and sex- who consulted at Clinique Universitaire de la Vision. No active recruitment due to constraints in budget and manpower.
Treatment group (Fabry) were actively recruited
Not provided
| ID | Title | Description |
|---|---|---|
| FG000 | FABRY Group |
|
| FG001 | CONTROL Group |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
Not provided
Not provided
Not provided
Not provided
Not provided
|
| Slit Lamp assessment and intra-ocular pressure measurement | Procedure | Slit lamp is used to assess the presence of significant lens opacities known as Fabry cataracts. In fact, these opacities can induced a bias on the contrast sensitivity measurement and can increase the symptoms felt by the patient. A grade 2 (CFDI grading chart) of lens opacities is considered clinically significant and this will become an exclusion criteria for the following of the study. Intra-ocular pressure will be measured with a non contact tonometer (air pulsed) (Ocular Response Analyser, Reichert Instrumentation.) |
|
| Visual field testing | Procedure | Visual field will be assessed with an automated perimeter (Humphrey, Texas) using a threshold strategy. This implies that the subject has to identify not only if he perceives the visual stimulus but the minimal level of this stimulus (in decibels), to be seen, is also recorded. Visual field will be tested up to 30 degrees from the central point of fixation. In order to measure immediate variability of the visual testing among Fabry subjects, this test will be done at the beginning of the testing session (in the morning) and another time 1h00 later. |
|
| Oxygen flow at the optic nerve head measurement | Procedure | Pupils will be dilated with 1 drop of 1% tropicamide. The procedure is similar to the one used for taking a photo of the retina. Each measurement session represents a continuous recording of 20 simultaneous functions of reflectometry from the optic nerve area during 10 seconds. During all recording sessions, the systemic arterial oxygen saturation will be also monitored at the right index finger using a pulse oximeter (Escort M10, Invivo, Orlando, USA). Arterial blood pressure will be also monitored before and after the testing using a manual sphygmomanometer. |
|
|
| Tropicamide | Drug | Used to dilate patient's pupil during testing |
|
|
| OSOME | Device | The OSOME system is the only technology able to perform on line and real time capillaries blood oxygenation measurement in the eye. The system operates with 1200 discreet wavelengths between 400 nm to 700 nm with 500 millisecond integration times. It is not invasive, functioning just like a fundus camera. |
|
|
| 2 years |
| 671138 | Background | 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. |
| 19340124 | Background | 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. |
C |
| COMPLETED |
|
| NOT COMPLETED |
|
|
Not provided
| ID | Title | Description |
|---|---|---|
| BG000 | FABRY Group |
|
| BG001 | CONTROL Group |
|
| BG002 | Total | Total of all reporting groups |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | The number analyzed in rows are detailled by category. The total of the participants in the 2 rows = overall number of participants. There is NO error | Count of Participants | Participants |
| |||||||||||||||
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| ||||||||||||||||
| Region of Enrollment | Number | participants |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Blood Oxygenation at the Optic Nerve Head | OSOME measurement of the blood oxygenation at the optic nerve head | Fabry disease patients | Posted | Mean | Standard Deviation | percentage of oxygen saturation | 2 years |
|
|
| ||||||||||||||||||||||||||||
| Secondary | Field Defect | 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. | Fabry patients vs historic database | Posted | Mean | Standard Deviation | Visual field Index (VFI) | 2 years |
|
|
Through study completion, an average of 2 years (Aug 2014- Sept 2016)
There was no adverse event reported.
Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | FABRY Group |
| 0 | 8 | 0 | 8 | 0 | 8 |
| EG001 | CONTROL Group |
C | 0 | 8 | 0 | 8 | 0 | 8 |
Not provided
Not provided
The first obvious limitation is the nature of a pilot study, relying on a limited number of subjects. Sub-analysis is limited due to the fact that all except two Fabry participants have the same classic mutation (p.Ala348Pro), and all males and none women are on ERT. Consequently results analysis must be made with caution and can probably not be generalized to other Fabry's cohorts.
Not provided
Not provided
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Langis Michaud | Université de Montréal | 5149166312 | langis.michaud@umontreal.ca |
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
Not provided
Not provided
| ID | Term |
|---|---|
| D014794 | Visual Fields |
| D014331 | Tropicamide |
| D009883 | Ophthalmic Solutions |
| ID | Term |
|---|---|
| D009799 | Ocular Physiological Phenomena |
| D011725 | Pyridines |
| D006573 | Heterocyclic Compounds, 1-Ring |
| D006571 | Heterocyclic Compounds |
| D019999 | Pharmaceutical Solutions |
| D012996 | Solutions |
| D004364 | Pharmaceutical Preparations |
| D045506 | Therapeutic Uses |
| D020228 | Pharmacologic Actions |
| D020164 | Chemical Actions and Uses |
| D020313 | Specialty Uses of Chemicals |
Not provided
Not provided
| Between 18 and 65 years |
|
| >=65 years |
|
| Heterozygotes- females |
|
|
|
|
|
| Counts |
|---|
| Participants |
|
|