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RECRUITINGOBSERVATIONAL

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - confirmed ZSD with deleterious variants in PEX genes identified - confirmed or expected retinal involvement Who Should NOT Join This Trial: - unable to perform a minimum of one vision test - severe ZSD disease Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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

Locations (3)

University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, United States
Eye Institute of Alberta
Edmonton, Alberta, Canada
Research Institute-McGill University Health Center
Montreal, Quebec, Canada