Observational study on retinal degeneration in Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
This study is trying to understand how vision loss happens in people with Zellweger Spectrum Disorder by checking their eyesight and health every year.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Sex | All |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 3 sites (Rochester, New York and 2 other locations) |
| Trial ID | NCT06190626 on ClinicalTrials.gov |
What this trial studies
This observational study aims to define the progression of retinal degeneration in patients with Zellweger Spectrum Disorder (ZSD). Participants will undergo yearly evaluations that include functional vision questionnaires, physical assessments, blood tests, and various vision tests to monitor their condition. The study seeks to identify the best methods for tracking vision loss and to generate prognostic information regarding the impact of ZSD on vision. Financial support for travel and accommodation will be provided for participants.
Who should consider this trial
Good fit: Ideal candidates are individuals with confirmed Zellweger Spectrum Disorder and retinal involvement.
Not a fit: Patients who are unable to perform at least one vision test or have severe ZSD may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved monitoring and understanding of vision loss in patients with Zellweger Spectrum Disorder.
How similar studies have performed: While this study focuses on a specific condition, similar observational studies have successfully defined disease progression in other genetic disorders.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Rochester, New York and 2 other locations
- University of Rochester Medical Center/Flaum Eye Institute — Rochester, New York, United States (Recruiting)
- Eye Institute of Alberta — Edmonton, Alberta, Canada (Recruiting)
- Research Institute-McGill University Health Center — Montreal, Quebec, Canada (Recruiting)
Study contacts
- Principal investigator: Nancy E Braverman, MD, MS — McGill University Health Centre/Research Institute of the McGill University Health Centre
- Study coordinator: Nancy E Braverman, MD, MS
- Email: nancy.braverman@mcgill.ca
- Phone: 514-934-1934
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.