Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
Recruiting
Observational Study
Zellweger Spectrum Disorder
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 30 (estimated)
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre · Other
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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 infor…
Trial Locations
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Eligibility 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
Contacts