Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
NCT ID: NCT06190626
Last Updated: 2026-01-21
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
30 participants
OBSERVATIONAL
2023-12-18
2029-01-01
Brief Summary
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The objective of this study is to gather information so the investigators can:
1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration
2. define what tests best monitor the progression of the retinal degeneration
3. generate prognostic information about vision loss in ZSD.
At each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history.
Participants will travel to study site. The study will provide financial support for board and travel.
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Detailed Description
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Below is a list of the vision tests used for this study:
Prior to each visit, the participant will complete the PedEyeQ or VFQ-25 questionnaire about functional vision.
At each clinic visit :
* Refraction and glasses test: this is a general vision test, as commonly conducted by an optometrist, before and after pupil dilation
* Best corrected visual acuity: the participant's vision will be tested using cards or a chart.
* Contrast sensitivity: the participant's ability to detect contrast will be tested using a chart.
* Visual field: the participant's field of vision will be tested by asking them to indicate when they see a stimulus.
* Reading test: the participant's ability to see written text will be tested using the International Reading Speed Test
* Color vision test: the participant's ability to see color will be tested using cards
* Eye exam: the participant's eyes will be examined with a lamp
* Pupil dilation: to allow the completion of some tests, the participant's pupils will be dilated using medicated eye drops
* Microperimetry: the participant's macula (central retina) will be visualized.
* Fundus photography: the participant's fundus (central retina) will be photographed in light and dark conditions
* Full field stimulus threshold test: the participant's ability to perceive light in different parts of their visual field will be tested
* Optical coherence tomography (OCT): detailed images of the participant's retina will be taken
* Fundus autofluorescence: the participant's retinal health will be assessed by imaging the natural fluorescent properties of their retinal pigment epithelium
* Chromatic pupillometry: the function of different cells in the participant's retina will be determined by measuring their response to light
* Multi-luminance mobility test (MLMT): the participant will walk through an obstacle course at varying light levels to test their functional vision in different light conditions.
* Blood collection: a blood sample will be collected and banked to measure peroxisome functions.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* confirmed or expected retinal involvement
Exclusion Criteria
* severe ZSD disease
ALL
No
Sponsors
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Canadian Institutes of Health Research (CIHR)
OTHER_GOV
McGill University Health Centre/Research Institute of the McGill University Health Centre
OTHER
Responsible Party
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Nancy Braverman
Professor
Principal Investigators
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Nancy E Braverman, MD, MS
Role: PRINCIPAL_INVESTIGATOR
McGill University Health Centre/Research Institute of the McGill University Health Centre
Locations
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University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, United States
Eye Institute of Alberta
Edmonton, Alberta, Canada
Research Institute-McGill University Health Center
Montreal, Quebec, Canada
Countries
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Central Contacts
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Facility Contacts
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References
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Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23.
Yergeau C, Coussa RG, Antaki F, Argyriou C, Koenekoop RK, Braverman NE. Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review. Ophthalmology. 2023 Dec;130(12):1313-1326. doi: 10.1016/j.ophtha.2023.07.026. Epub 2023 Aug 2.
Other Identifiers
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2024-9679
Identifier Type: -
Identifier Source: org_study_id
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