Zellweger Spectrum Disorder Clinical Trial
— ZSDvisionOfficial title:
Longitudinal Prospective Natural History Study of Retinopathy in 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.
Status | Recruiting |
Enrollment | 30 |
Est. completion date | January 1, 2029 |
Est. primary completion date | January 1, 2029 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
Canada | Frederique Arnaud | Montreal | Quebec |
Lead Sponsor | Collaborator |
---|---|
McGill University Health Centre/Research Institute of the McGill University Health Centre | Canadian Institutes of Health Research (CIHR) |
Canada,
Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. — View Citation
Yergeau C, Coussa RG, Antaki F, Argyriou C, Koenekoop RK, Braverman NE. Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review. Ophthalmology. 2023 Dec;130(12):1313-1326. doi: 10.1016/j.ophtha.2023.07.026. Epub 2023 Aug 2. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of participants with disease progression | Using various tests of vision measured annually, a description of disease progression will be defined in each participant. | 5 years | |
Primary | Number of participants with common patterns of retinal degeneration observed | Vision test results from participants will be reviewed together to describe common patterns of retinal degeneration observed. | 5 years | |
Secondary | Rate of progression of retinal degeneration | Statistical analysis using the data from Outcome 1, will be used to generate rate of progression per year over 5 years in each individual. | 5 years | |
Secondary | Correlation of rate retinal degeneration to age and overall ZSD disease severity | Statistical analysis using the data from Outcome 1, will be used to correlate rate of progression per year over 5 years to age and overall ZSD disease severity in each individual. | 5 years | |
Secondary | rate of progression of retinal degeneration | Statistical analysis using the data from Outcome 1, will be used to define variance between participants in rate of progression of retinal degeneration. | 5 years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Recruiting |
NCT01668186 -
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
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