Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
McGill University Health Centre/Research Institute of the McGill University Health Centre
30 participants
Dec 18, 2023
OBSERVATIONAL
Conditions
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. 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.
Eligibility
Inclusion Criteria2
- confirmed ZSD with deleterious variants in PEX genes identified
- confirmed or expected retinal involvement
Exclusion Criteria2
- unable to perform a minimum of one vision test
- severe ZSD disease
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Locations(3)
View Full Details on ClinicalTrials.gov
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NCT06190626