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Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder

Zellweger Spectrum Disorder

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.

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Participation Requirements

  • Sex:

    ALL

  • Eligible Ages:

    0 and up

Participation Criteria

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

Study Location

Frederique Arnaud
Frederique Arnaud
Montreal, Quebec
Canada

Contact Study Team

Primary Contact

Frederique Arnaud, BScN

[email protected]
Study Sponsored By
McGill University Health Centre/Research Institute of the McGill University Health Centre
Participants Required
More Information
Study ID: NCT06190626