Zellweger Spectrum DisorderZSDvisionNCT06190626
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
An observational study of Zellweger Spectrum Disorder, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 3 sites in 2 countries.
Trial summary
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Zellweger Spectrum Disorder
- How many people
- 30 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 18 Dec 2023to 1 Jan 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: any age, with appropriate diagnosis
Who may be able to join
- confirmed ZSD with deleterious variants in PEX genes identified
- confirmed or expected retinal involvement
Who cannot join
- unable to perform a minimum of one vision test
- severe ZSD disease
Trial locations and contacts
3 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 2 countries
Canada2 sites, 2 recruiting
- Recruiting
Eye Institute of Alberta
Edmonton, Alberta, T5H 3V9
Constantin Mouzaaber, MSc, 587-590-5041, muzaber@ualberta.ca
Matthew Benson, MD, MSc
- Recruiting
Research Institute-McGill University Health Center
Montreal, Quebec, H4A 3J1
Frederique Arnaud, BScN, frederique.arnaud@muhc.mcgill.ca
Nancy E Braverman, MD, MS
United States1 site, 1 recruiting
- Recruiting
University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, 14642
Alex Levin, MD, alex_levin@urmc.rochester.edu
Alex Levin
About this study
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort.
The objective of this study is to gather information so the investigators can:
Read more
- define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration
- define what tests best monitor the progression of the retinal degeneration
- 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.
Read the detailed description
Participants/guardians will have a 1-hour virtual interview before the first visit to review the tests and determine which tests the participant is able to perform.
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
- Zellweger Spectrum Disorder
- Keywords
- ZSD, PEX gene mutation, Retinopathy
- Medical subject headings
- Zellweger Syndrome, Retinal Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with disease progression
Using various tests of vision measured annually, a description of disease progression will be defined in each participant.
Measured: 5 years
Number of participants with common patterns of retinal degeneration observed
Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed.
Measured: 5 years
Secondary outcomes (3)
Rate of progression of retinal degeneration
Statistical analysis using the data from Outcome 1, will be used to generate rate of progression per year over 5 years in each individual.
Measured: 5 years
Correlation of rate retinal degeneration to age and overall ZSD disease severity
Statistical analysis using the data from Outcome 1, will be used to correlate rate of progression per year over 5 years to age and overall ZSD disease severity in each individual.
Measured: 5 years
rate of progression of retinal degeneration
Statistical analysis using the data from Outcome 1, will be used to define variance between participants in rate of progression of retinal degeneration.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jan 2024
- Study start18 Dec 2023
- Primary completion1 Jan 2029 (estimated)
- Study completion1 Jan 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Zellweger Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by McGill University Health Centre/Research Institute of the McGill University Health CentreThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
- Sponsor type
- University, hospital or other
- Collaborators
- Canadian Institutes of Health Research (CIHR)
- Responsible party
- Principal investigator, Nancy Braverman, McGill University Health Centre/Research Institute of the McGill University Health Centre
- Investigators
- Nancy E Braverman, MD, MS, Principal investigator, McGill University Health Centre/Research Institute of the McGill University Health Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06190626
- Sponsor's protocol ID
- 2024-9679
- Acronym
- ZSDvision
- Status last verified
- Jan 2026
- First submitted
- 4 Dec 2023
- Last updated
- 21 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 26750748Yergeau 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.
PubMed 37541626
Study at a glance
From the registry record, last updated by the sponsor on 21 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
- ClinicalTrials.gov ID
- NCT06190626
- Acronym / sponsor ID
- ZSDvision / 2024-9679
- Conditions
- Zellweger Spectrum Disorder
- Keywords
- ZSD, PEX gene mutation, Retinopathy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health CentreUniversity, hospital or other
- Collaborators
- Canadian Institutes of Health Research (CIHR)
- Study start
- 18 Dec 2023 (actual)
- Primary completion
- 1 Jan 2029 (estimated)
- Study completion
- 1 Jan 2029 (estimated)
- First posted
- 5 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort.
The objective of this study is to gather information so the investigators can:
- define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration
- define what tests best monitor the progression of the retinal degeneration
- 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.
Detailed description
Participants/guardians will have a 1-hour virtual interview before the first visit to review the tests and determine which tests the participant is able to perform.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- any age, with appropriate diagnosis
Key inclusion criteria (2 listed)
- confirmed ZSD with deleterious variants in PEX genes identified
- confirmed or expected retinal involvement
Key exclusion criteria (2 listed)
- unable to perform a minimum of one vision test
- severe ZSD disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of participants with disease progression
Time frame: 5 years
Using various tests of vision measured annually, a description of disease progression will be defined in each participant.
Number of participants with common patterns of retinal degeneration observed
Time frame: 5 years
Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed.
3 secondary outcomes
Rate of progression of retinal degeneration
Time frame: 5 years
Correlation of rate retinal degeneration to age and overall ZSD disease severity
Time frame: 5 years
rate of progression of retinal degeneration
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jan 2026.
- Background: PubMed 26750748Braverman 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.
- Background: PubMed 37541626Yergeau 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.
- Individual participant dataSharing planned: No
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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.
Nancy E Braverman, MD, MS principal investigator
McGill University Health Centre/Research Institute of the McGill University Health Centre
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Zellweger Spectrum Disorder, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 3 sites in 2 countries.
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 2 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 21 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Canada, United States. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Nancy E Braverman, MD, MS (514-934-1934 ext. 23404, nancy.braverman@mcgill.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with disease progression (time frame: 5 years). The study lists 2 primary outcomes in all. 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 NCT06190626, which also lists 2 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 21 Jan 2026.