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Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

RECRUITINGSponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre
Actively Recruiting
SponsorMcGill University Health Centre/Research Institute of the McGill University Health Centre
Started2023-12-18
Est. completion2029-01-01
Eligibility
Healthy vol.Accepted
Locations1 site
View on ClinicalTrials.gov →

NCT06190626

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

Healthy volunteers accepted
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

Conditions2

Liver DiseaseZellweger Spectrum Disorder

Locations1 site

University of Rochester Medical Center/Flaum Eye Institute
Rochester, New York, 14642
Alex Levin, MDalex_levin@urmc.rochester.edu

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