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Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Recruitingn/aAges any - anyAllMcGill University Health Centre/Research Institutโ€ฆ
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In plain words

What the trial is, and whether it could suit you

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.

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

3 sites
University of Rochester Medical Center/Flaum Eye Institute
Rochester, United States
Eye Institute of Alberta
Edmonton, Canada
Research Institute-McGill University Health Center
Montreal, Canada
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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