Actively Recruiting
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
263 weeks
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
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. 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.
CONDITIONS
Official Title
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Confirmed Zellweger Spectrum Disorder with harmful variants in PEX genes
- Confirmed or expected retinal involvement
You will not qualify if you...
- Unable to perform at least one vision test
- Severe Zellweger Spectrum Disorder
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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
Research Team
N
Nancy E Braverman, MD, MS
CONTACT
F
Frederique Arnaud, BScN
CONTACT
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
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