Fabry DiseaseNCT02023086
Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
An observational study of Fabry Disease, run by Université de Montréal at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Contrast sensitivity measurement, Slit Lamp assessment and intra-ocular pressure measurement and Visual field testing
- Type of treatment
- Medical device, Surgery or procedure
- How many people
- 8 participants
- Where
- 1 siteCanada
- Study dates
- Aug 2014to Sep 2016
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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
Show all 10Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Relation With Visual Field Loss in Fabry Patients
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.
Read more
HYPOTHESIS
- 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.
Read the 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
- Conditions
- Fabry Disease
- Being tested
- Contrast sensitivity measurement, Slit Lamp assessment and intra-ocular pressure measurement, Visual field testing, Oxygen flow at the optic nerve head measurement, Tropicamide
- Keywords
- Visual field defect, Blood oxygenation, Optic nerve Head
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Contrast sensitivity measurementProcedure or surgery
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.
Slit Lamp assessment and intra-ocular pressure measurementProcedure or surgery
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 testingProcedure or surgery
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 measurementProcedure or surgery
Also called OSOME
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.
TropicamideDrug
Also called Mydriacyl® Mydriatic Tropicamide 1% Ophthalmic Drops, DIN 00001007
Used to dilate patient's pupil during testing
OSOMEDevice
Also called (O.S.O.M.E., US patent # 5,919,132;)
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.
| Study group | Role | What they receive |
|---|---|---|
| FABRY group | * 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 Receives: 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; Drug: Tropicamide; Device: OSOME | |
| CONTROL group (Historical database) | * 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 Receives: 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; Drug: Tropicamide; Device: OSOME |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood Oxygenation at the Optic Nerve Head
OSOME measurement of the blood oxygenation at the optic nerve head
Measured: 2 years
Secondary outcomes (1)
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Dec 2013 (estimated)
- Study startAug 2014
- Primary completionSep 2016
- Study completionSep 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 8 participants (actual)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Université de Montréal
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Principal investigator, Langis Michaud, Université de Montréal
- Investigators
- Langis Michaud, OD M.Sc., Principal investigator, Universite de Montreal
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02023086
- Sponsor's protocol ID
- GZ-2012-10918
- Status last verified
- Sep 2024
- First submitted
- 10 Dec 2013
- Last updated
- 19 Sep 2024
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 19852573Kumagai 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.
PubMed 18991052Feke 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.
PubMed 671138Diaconu 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.
PubMed 19340124
Study at a glance
From the registry record, last updated by the sponsor on 19 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Relation With Visual Field Loss in Fabry Patients
- ClinicalTrials.gov ID
- NCT02023086
- Acronym / sponsor ID
- GZ-2012-10918
- Conditions
- Fabry Disease
- Keywords
- Visual field defect, Blood oxygenation, Optic nerve Head
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Université de MontréalUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- Aug 2014
- Primary completion
- Sep 2016 (actual)
- Study completion
- Sep 2016 (actual)
- First posted
- 30 Dec 2013 (estimated)
- Results
- Posted 19 Sep 2024
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- 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
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FABRY group | – | 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, Drug: Tropicamide, Device: OSOME* 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) | – | 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, Drug: Tropicamide, Device: 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (10 listed)
- Aged over 18 years old
- Being diagnosed with Fabry disease
- Is fit to give legal consent.
- Is available for a period of 2 years
- Matched for age and sex with group A - 6 participants
Key exclusion criteria (5 listed)
- 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 is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Contrast sensitivity measurementContrast 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. | Procedure or surgery | CONTROL group (Historical database), FABRY group |
| Slit Lamp assessment and intra-ocular pressure measurementSlit 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.) | Procedure or surgery | CONTROL group (Historical database), FABRY group |
| Visual field testingVisual 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. | Procedure or surgery | CONTROL group (Historical database), FABRY group |
| Oxygen flow at the optic nerve head measurementAlso: OSOMEPupils 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. | Procedure or surgery | CONTROL group (Historical database), FABRY group |
| TropicamideAlso: Mydriacyl® Mydriatic Tropicamide 1% Ophthalmic Drops, DIN 00001007Used to dilate patient's pupil during testing | Drug | CONTROL group (Historical database), FABRY group |
| OSOMEAlso: (O.S.O.M.E., US patent # 5,919,132;)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. | Device | CONTROL group (Historical database), FABRY group |
Primary outcome
Blood Oxygenation at the Optic Nerve Head
Time frame: 2 years
OSOME measurement of the blood oxygenation at the optic nerve head
1 secondary outcome
Field Defect
Time frame: 2 years
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Sep 2024.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Background: PubMed 19852573Pitz 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.
- Background: PubMed 18991052Kumagai 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.
- Background: PubMed 671138Feke 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.
- Background: PubMed 19340124Diaconu 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.
- web site of the School of Optometry University of MontrealLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Langis Michaud, OD M.Sc. principal investigator
Universite de Montreal
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Université de Montréal at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 19 Sep 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 19 Sep 2024). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Blood Oxygenation at the Optic Nerve Head (time frame: 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02023086, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Sep 2024.