RecruitingNCT06190626

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder


Sponsor

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

Enrollment

30 participants

Start Date

Dec 18, 2023

Study Type

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)

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

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NCT06190626


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