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Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Who can join
All ages · All sexes
Full eligibility criteria
Inclusion Criteria: * confirmed ZSD with deleterious variants in PEX genes identified * confirmed or expected retinal involvement Exclusion Criteria: * unable to perform a minimum of one vision test * severe ZSD disease
About the 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:
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.
Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre · Participants: 30 · Started: Dec 18, 2023
Contact the study team
- Nancy E Braverman, MD, MS · Phone: 514-934-1934
- Frederique Arnaud, BScN · Phone: 514-934-1934
Official record on ClinicalTrials.gov — NCT06190626
Locations in the U.S.
| New York | University of Rochester Medical Center/Flaum Eye Institute, Rochester |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.