Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Recruiting now

Conditions studied: Zellweger Spectrum Disorder

In brief

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.

Key facts

Study ID

NCT06190626

Run by

McGill University Health Centre/Research Institute of the McGill University Health Centre

People needed

30

Starts

2023-12-18

Expected to finish

2029-01-01

Last updated by the study team

2026-01-21

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• confirmed ZSD with deleterious variants in PEX genes identified
• confirmed or expected retinal involvement

You may not qualify if…

• unable to perform a minimum of one vision test
• severe ZSD disease

Where it is running

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

Full record on ClinicalTrials.gov

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