Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Nancy E Braverman, Gerald V Raymond, William B Rizzo...
https://pubmed.ncbi.nlm.nih.gov/26750748Actively Recruiting
All Genders
ID06190626
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Led by McGill University Health Centre/Research Institute of the McGill University Health Centre · Updated on 2026-01-21
30
Participants Needed
3
Research Sites
N/A
Total Duration
On this page
Sponsors
M
McGill University Health Centre/Research Institute of the McGill University Health Centre
Lead Sponsor
C
Canadian Institutes of Health Research (CIHR)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to understand how retinal degeneration progresses in patients with Zellweger Spectrum Disorder (ZSD). The study will evaluate which tests best track this progression and gather information to predict vision loss in this patient group. It is an observational study focused on following participants over time to learn more about their eye health related to ZSD. Participants will take part in yearly visits where they will complete vision-related questionnaires and undergo a wide range of vision tests. These tests include refraction, visual acuity, contrast sensitivity, visual fields, color vision, eye exams, pupil dilation, microperimetry, fundus photography, optical coherence tomography, and others that assess different aspects of retinal health and function. Blood samples will also be taken to analyze peroxisome function. Before the first visit, a virtual interview will help determine which tests each participant can perform. During the study, participants will be evaluated annually with detailed eye exams and questionnaires about their functional vision. Researchers will collect medical history and conduct physical exams and blood tests to support their assessments. The main outcomes measured over five years include the number of participants showing retinal degeneration progression and common patterns observed. The study will provide financial support for travel and accommodation to attend these visits, with the total study duration spanning multiple years to monitor changes over time.
CONDITIONS
Brief Title
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Confirmed Zellweger Spectrum Disorder with deleterious variants in PEX genes identified
- Confirmed or expected retinal involvement
You will not qualify if you...
- Unable to perform a minimum of one vision test
- Severe Zellweger Spectrum Disorder
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1-hour virtual interview before the first visit
Diagnostic Evaluation
Duration - Up to 5 years
Participants complete vision-related questionnaires and undergo a series of vision tests and imaging to assess retinal health and function.
Multiple clinic visits for comprehensive vision and eye exams including questionnaires, imaging, and blood collection
Long-term Monitoring
Duration - Up to 5 years
Participants are monitored over time to observe the progression of retinal degeneration and correlate it with overall disease severity.
Periodic visits for ongoing vision assessments and monitoring
Trial Site Locations
Total: 3 locations
1
University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, United States, 14642
Actively Recruiting
2
Eye Institute of Alberta
Edmonton, Alberta, Canada, T5H 3V9
Actively Recruiting
3
Research Institute-McGill University Health Center
Montreal, Quebec, Canada, H4A 3J1
Actively Recruiting
Loading map...
Research Team
N
Nancy E Braverman, MD, MS
F
Frederique Arnaud, BScN
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here
Published Research Related To This Trial
Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review.
Christine Yergeau, Razek G Coussa, Fares Antaki...
https://pubmed.ncbi.nlm.nih.gov/37541626